TY - JOUR
AU - Tamir, Sivan
AB - I. INTRODUCTION The post-genomics era and the public's growing ‘genetic curiosity’, together with the commercial offering of Direct-to-Consumer (DTC) genetic tests, merit particular consideration with regard to the consumption of these tests. DTC genetic tests are becoming increasingly prevalent, emerging as a fashionable, widely used health-assessment instrument. While viewed by some as an enabling tool for exercising one's autonomous quest for personal health information, others find them to be both ethically flawed and a disconcerting trend. The multiple ethical and legal concerns of the quest for genomic information through the use of DTC genetic tests will be highlighted in this paper, supporting the call for specific harmonised regulation of such tests. Gene-based personalised medicine appears to be the current ambition of many medical geneticists and researchers. However, the routine inclusion of individual whole-genome sequencing in one's medical file seems like a premature vision.1 At present, the road to full realisation of this vision is only fragmentally paved by identified single nucleotide polymorphisms (SNPs), which are associated with specific disorders such as breast cancer, prostate cancer, and type 2 diabetes. Our current knowledge and understanding of personal genomics is far from complete. Many markers have not yet been discovered and their contribution to the incidence of disease, as well as their interaction with one another, is not clear, making their clinical application rather limited. Furthermore, the implications of what we do know (but do not always fully comprehend) on disease prevention or treatment have yet to be determined.2 Despite our only partial genomic knowledge and comprehension, a wide variety of DTC genetic tests are being confidently offered to the public, including diagnostic tests for symptomatic individuals, (preconception) tests for carrier status, tests for predisposition to common diseases, tests for propensity to addictions, ‘nutrigenetic’ tests linking personal genetics with dietary habits and lifestyle, and paternity and genealogy tests. These personal genetic services are available as home/self-test kits, self-testing mail orders, and online genome-wide scans. Their cost ranges from several hundred to several thousand US dollars (Table 1, row 1). Table 1. The principal DTC genetic testing companies—a comparative charta Features  DeCODEmeb  23andMec  Navigenicsd  DNAdirecte  1. DTC genetic services offered  Complete genetic scan for ancestry and 38 traits and health conditions, including alcohol flush reaction, various types of cancers, heart conditions, etc. ($985); genetic risk assessment for 7 types of cancer ($225); 6 most common types of cardiovascular diseases ($195).  Genetic scan for 114 traits and health conditions, including breast cancer, celiac disease, eye colour, heart attack, obesity, etc. and an ancestry scan ($399).  Annual snapshot of an individual's genetic predisposition to a selection of 10 common health conditions ($499); extensive genetic testing service for various health conditions, including brain aneurysm, breast cancer, Crohn's disease, etc. ($2,499).  Full sequence DNA analysis: BRCA1, BRCA 2 ($3,456); DNA archive ($225); tests for blood clotting disorders ($265–$380); CYP450 drug–response test ($250–$630) etc.; pre- and post-test consultation by genetic experts ($75–$199).  2. Availability of genetic counselling  Genetic counselling via email or by telephone.  N/A  Genetic testing services available through affiliated physicians; pre- and post-test genetic consultation through phone appointments.  Pre- and post-test genetic consultation; a personalised report, including a physician's letter to the customer's personal physician.  3. Restricted access for minors and children's privacy protection  ‘[y]ou have all necessary legal capacity under the laws of the state of your residence to enter this Service Agreement.’  ‘You represent that you are eighteen (18) years of age or older’. ‘23andMe is committed to protecting the privacy of children … Neither 23andMe nor … its services are designed or intended to attract children under the age of 13.’  ‘This website is not directed toward minors under 18 years of age … . Navigenics does not knowingly collect or use information from minors under the age of 18.'  ‘Neither DNA Direct nor … its services are designed or intended to attract children under the age of 13. We do not collect Personally Identifiable Information from any person we actually know is under the age of 13.’  4. Realisation of the right not-to-know  ‘Before you access the results … you will be given information about the nature of the disease or trait you select to and asked if you consent to view your results.’  ‘You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life … . You may discover things about yourself that trouble you and that you may not have the ability to control …’  N/A  N/A  5. Manifestation of intent to use genetic samples & data for research  ‘[d]eCODE may contact you … and invite you to participate in research studies. You can choose not to be contacted through your email … ’  ‘23andMe may grant researchers … access to aggregated data from our database of genetic and other contributed personal information for specific research queries. 23andMe will provide only individual-level data to external researchers upon individual consent from each customer. In addition, we will ensure that such research partners obtain clearance from institutional review board.’f  ‘You also have the opportunity to participate in scientific research by contributing Your Genetic Data and Your Phenotype Information obtained through the Navigenics service.’  N/A  6. Disclaimers relating to unlawful/non-consensual genetic testing  ‘[t]he information generated from the Genetic Scan will be used for lawful purposes only … . By submitting a sample for Genetic Scanning, you confirm and warrant that you have the right to take and submit such sample … you do so freely and of your own will … either you are the owner of the sample or have full authority of the owner or subject of the sample to submit the sample for processing.’  ‘[y]ou warrant to 23andMe that you will not use the Service for any purpose that is unlawful … . You understand that using 23andMe's web site for an illegal purpose … may result in removal of content and/or termination of your service.’  ‘You also represent and warrant that any saliva samples you submit to us for processing … are your own, that you are 18 years of age or older and that you will not use our Site or the Services for any purpose that is unlawful, unethical …’  ‘You agree not to: … Use the Site, Information or Services for any unlawful purpose. Communicate any confidential or non-public information about any other person or entity without the authorization to do so …’  Features  DeCODEmeb  23andMec  Navigenicsd  DNAdirecte  1. DTC genetic services offered  Complete genetic scan for ancestry and 38 traits and health conditions, including alcohol flush reaction, various types of cancers, heart conditions, etc. ($985); genetic risk assessment for 7 types of cancer ($225); 6 most common types of cardiovascular diseases ($195).  Genetic scan for 114 traits and health conditions, including breast cancer, celiac disease, eye colour, heart attack, obesity, etc. and an ancestry scan ($399).  Annual snapshot of an individual's genetic predisposition to a selection of 10 common health conditions ($499); extensive genetic testing service for various health conditions, including brain aneurysm, breast cancer, Crohn's disease, etc. ($2,499).  Full sequence DNA analysis: BRCA1, BRCA 2 ($3,456); DNA archive ($225); tests for blood clotting disorders ($265–$380); CYP450 drug–response test ($250–$630) etc.; pre- and post-test consultation by genetic experts ($75–$199).  2. Availability of genetic counselling  Genetic counselling via email or by telephone.  N/A  Genetic testing services available through affiliated physicians; pre- and post-test genetic consultation through phone appointments.  Pre- and post-test genetic consultation; a personalised report, including a physician's letter to the customer's personal physician.  3. Restricted access for minors and children's privacy protection  ‘[y]ou have all necessary legal capacity under the laws of the state of your residence to enter this Service Agreement.’  ‘You represent that you are eighteen (18) years of age or older’. ‘23andMe is committed to protecting the privacy of children … Neither 23andMe nor … its services are designed or intended to attract children under the age of 13.’  ‘This website is not directed toward minors under 18 years of age … . Navigenics does not knowingly collect or use information from minors under the age of 18.'  ‘Neither DNA Direct nor … its services are designed or intended to attract children under the age of 13. We do not collect Personally Identifiable Information from any person we actually know is under the age of 13.’  4. Realisation of the right not-to-know  ‘Before you access the results … you will be given information about the nature of the disease or trait you select to and asked if you consent to view your results.’  ‘You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life … . You may discover things about yourself that trouble you and that you may not have the ability to control …’  N/A  N/A  5. Manifestation of intent to use genetic samples & data for research  ‘[d]eCODE may contact you … and invite you to participate in research studies. You can choose not to be contacted through your email … ’  ‘23andMe may grant researchers … access to aggregated data from our database of genetic and other contributed personal information for specific research queries. 23andMe will provide only individual-level data to external researchers upon individual consent from each customer. In addition, we will ensure that such research partners obtain clearance from institutional review board.’f  ‘You also have the opportunity to participate in scientific research by contributing Your Genetic Data and Your Phenotype Information obtained through the Navigenics service.’  N/A  6. Disclaimers relating to unlawful/non-consensual genetic testing  ‘[t]he information generated from the Genetic Scan will be used for lawful purposes only … . By submitting a sample for Genetic Scanning, you confirm and warrant that you have the right to take and submit such sample … you do so freely and of your own will … either you are the owner of the sample or have full authority of the owner or subject of the sample to submit the sample for processing.’  ‘[y]ou warrant to 23andMe that you will not use the Service for any purpose that is unlawful … . You understand that using 23andMe's web site for an illegal purpose … may result in removal of content and/or termination of your service.’  ‘You also represent and warrant that any saliva samples you submit to us for processing … are your own, that you are 18 years of age or older and that you will not use our Site or the Services for any purpose that is unlawful, unethical …’  ‘You agree not to: … Use the Site, Information or Services for any unlawful purpose. Communicate any confidential or non-public information about any other person or entity without the authorization to do so …’  aThe data presented in this table is the product of the author's search through the companies' Internet sites and is based on the information posted therein by the companies, at the time of access. It is brought exclusively to illustrate some of the points raised in this paper. bhttp://www.decodeme.com/, accessed May 20 2009. chttps://www.23andme.com/, accessed May 20 2009. dhttp://www.navigenics.com/visitor/genetics_and_health/, accessed May 20 2009. e<http://www.dnadirect.com/web/>, accessed May 20 2009. f23andMe has substantially improved its informed consent form in this matter, to comply with ethical requirements. In November 2007, the following wording was used: ‘23andMe may grant researchers associated with partner organizations access to our database of genetic and other contributed personal information after such organizations agree to maintain confidentiality consistent withour privacy policy. External researchers will have access to your genetic and other contributed personal information … ’ (emphasis added). When accessed on May 2009, the wording has been modified as appears in the chart. Evidently, the modified wording put stronger emphasis on the customer's consent and on external ethical scrutiny (IRB), rather than relying on the company's self-policy. View Large Table 1. The principal DTC genetic testing companies—a comparative charta Features  DeCODEmeb  23andMec  Navigenicsd  DNAdirecte  1. DTC genetic services offered  Complete genetic scan for ancestry and 38 traits and health conditions, including alcohol flush reaction, various types of cancers, heart conditions, etc. ($985); genetic risk assessment for 7 types of cancer ($225); 6 most common types of cardiovascular diseases ($195).  Genetic scan for 114 traits and health conditions, including breast cancer, celiac disease, eye colour, heart attack, obesity, etc. and an ancestry scan ($399).  Annual snapshot of an individual's genetic predisposition to a selection of 10 common health conditions ($499); extensive genetic testing service for various health conditions, including brain aneurysm, breast cancer, Crohn's disease, etc. ($2,499).  Full sequence DNA analysis: BRCA1, BRCA 2 ($3,456); DNA archive ($225); tests for blood clotting disorders ($265–$380); CYP450 drug–response test ($250–$630) etc.; pre- and post-test consultation by genetic experts ($75–$199).  2. Availability of genetic counselling  Genetic counselling via email or by telephone.  N/A  Genetic testing services available through affiliated physicians; pre- and post-test genetic consultation through phone appointments.  Pre- and post-test genetic consultation; a personalised report, including a physician's letter to the customer's personal physician.  3. Restricted access for minors and children's privacy protection  ‘[y]ou have all necessary legal capacity under the laws of the state of your residence to enter this Service Agreement.’  ‘You represent that you are eighteen (18) years of age or older’. ‘23andMe is committed to protecting the privacy of children … Neither 23andMe nor … its services are designed or intended to attract children under the age of 13.’  ‘This website is not directed toward minors under 18 years of age … . Navigenics does not knowingly collect or use information from minors under the age of 18.'  ‘Neither DNA Direct nor … its services are designed or intended to attract children under the age of 13. We do not collect Personally Identifiable Information from any person we actually know is under the age of 13.’  4. Realisation of the right not-to-know  ‘Before you access the results … you will be given information about the nature of the disease or trait you select to and asked if you consent to view your results.’  ‘You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life … . You may discover things about yourself that trouble you and that you may not have the ability to control …’  N/A  N/A  5. Manifestation of intent to use genetic samples & data for research  ‘[d]eCODE may contact you … and invite you to participate in research studies. You can choose not to be contacted through your email … ’  ‘23andMe may grant researchers … access to aggregated data from our database of genetic and other contributed personal information for specific research queries. 23andMe will provide only individual-level data to external researchers upon individual consent from each customer. In addition, we will ensure that such research partners obtain clearance from institutional review board.’f  ‘You also have the opportunity to participate in scientific research by contributing Your Genetic Data and Your Phenotype Information obtained through the Navigenics service.’  N/A  6. Disclaimers relating to unlawful/non-consensual genetic testing  ‘[t]he information generated from the Genetic Scan will be used for lawful purposes only … . By submitting a sample for Genetic Scanning, you confirm and warrant that you have the right to take and submit such sample … you do so freely and of your own will … either you are the owner of the sample or have full authority of the owner or subject of the sample to submit the sample for processing.’  ‘[y]ou warrant to 23andMe that you will not use the Service for any purpose that is unlawful … . You understand that using 23andMe's web site for an illegal purpose … may result in removal of content and/or termination of your service.’  ‘You also represent and warrant that any saliva samples you submit to us for processing … are your own, that you are 18 years of age or older and that you will not use our Site or the Services for any purpose that is unlawful, unethical …’  ‘You agree not to: … Use the Site, Information or Services for any unlawful purpose. Communicate any confidential or non-public information about any other person or entity without the authorization to do so …’  Features  DeCODEmeb  23andMec  Navigenicsd  DNAdirecte  1. DTC genetic services offered  Complete genetic scan for ancestry and 38 traits and health conditions, including alcohol flush reaction, various types of cancers, heart conditions, etc. ($985); genetic risk assessment for 7 types of cancer ($225); 6 most common types of cardiovascular diseases ($195).  Genetic scan for 114 traits and health conditions, including breast cancer, celiac disease, eye colour, heart attack, obesity, etc. and an ancestry scan ($399).  Annual snapshot of an individual's genetic predisposition to a selection of 10 common health conditions ($499); extensive genetic testing service for various health conditions, including brain aneurysm, breast cancer, Crohn's disease, etc. ($2,499).  Full sequence DNA analysis: BRCA1, BRCA 2 ($3,456); DNA archive ($225); tests for blood clotting disorders ($265–$380); CYP450 drug–response test ($250–$630) etc.; pre- and post-test consultation by genetic experts ($75–$199).  2. Availability of genetic counselling  Genetic counselling via email or by telephone.  N/A  Genetic testing services available through affiliated physicians; pre- and post-test genetic consultation through phone appointments.  Pre- and post-test genetic consultation; a personalised report, including a physician's letter to the customer's personal physician.  3. Restricted access for minors and children's privacy protection  ‘[y]ou have all necessary legal capacity under the laws of the state of your residence to enter this Service Agreement.’  ‘You represent that you are eighteen (18) years of age or older’. ‘23andMe is committed to protecting the privacy of children … Neither 23andMe nor … its services are designed or intended to attract children under the age of 13.’  ‘This website is not directed toward minors under 18 years of age … . Navigenics does not knowingly collect or use information from minors under the age of 18.'  ‘Neither DNA Direct nor … its services are designed or intended to attract children under the age of 13. We do not collect Personally Identifiable Information from any person we actually know is under the age of 13.’  4. Realisation of the right not-to-know  ‘Before you access the results … you will be given information about the nature of the disease or trait you select to and asked if you consent to view your results.’  ‘You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life … . You may discover things about yourself that trouble you and that you may not have the ability to control …’  N/A  N/A  5. Manifestation of intent to use genetic samples & data for research  ‘[d]eCODE may contact you … and invite you to participate in research studies. You can choose not to be contacted through your email … ’  ‘23andMe may grant researchers … access to aggregated data from our database of genetic and other contributed personal information for specific research queries. 23andMe will provide only individual-level data to external researchers upon individual consent from each customer. In addition, we will ensure that such research partners obtain clearance from institutional review board.’f  ‘You also have the opportunity to participate in scientific research by contributing Your Genetic Data and Your Phenotype Information obtained through the Navigenics service.’  N/A  6. Disclaimers relating to unlawful/non-consensual genetic testing  ‘[t]he information generated from the Genetic Scan will be used for lawful purposes only … . By submitting a sample for Genetic Scanning, you confirm and warrant that you have the right to take and submit such sample … you do so freely and of your own will … either you are the owner of the sample or have full authority of the owner or subject of the sample to submit the sample for processing.’  ‘[y]ou warrant to 23andMe that you will not use the Service for any purpose that is unlawful … . You understand that using 23andMe's web site for an illegal purpose … may result in removal of content and/or termination of your service.’  ‘You also represent and warrant that any saliva samples you submit to us for processing … are your own, that you are 18 years of age or older and that you will not use our Site or the Services for any purpose that is unlawful, unethical …’  ‘You agree not to: … Use the Site, Information or Services for any unlawful purpose. Communicate any confidential or non-public information about any other person or entity without the authorization to do so …’  aThe data presented in this table is the product of the author's search through the companies' Internet sites and is based on the information posted therein by the companies, at the time of access. It is brought exclusively to illustrate some of the points raised in this paper. bhttp://www.decodeme.com/, accessed May 20 2009. chttps://www.23andme.com/, accessed May 20 2009. dhttp://www.navigenics.com/visitor/genetics_and_health/, accessed May 20 2009. e<http://www.dnadirect.com/web/>, accessed May 20 2009. f23andMe has substantially improved its informed consent form in this matter, to comply with ethical requirements. In November 2007, the following wording was used: ‘23andMe may grant researchers associated with partner organizations access to our database of genetic and other contributed personal information after such organizations agree to maintain confidentiality consistent withour privacy policy. External researchers will have access to your genetic and other contributed personal information … ’ (emphasis added). When accessed on May 2009, the wording has been modified as appears in the chart. Evidently, the modified wording put stronger emphasis on the customer's consent and on external ethical scrutiny (IRB), rather than relying on the company's self-policy. View Large DTC testing is subject to frequent and fierce criticism on several issues, including reduced safety and accuracy due to inadequate scientific evidence to support it, use of unaccredited laboratories, lack of quality assurance and regulation, insufficient clinical and analytical validity,3 and the potential to mislead consumers.4 The most prominent shortcoming of these tests is, however, the absence of adequate genetic counselling, a crucial component of the genetic risk assessment process, broadly recommended in guidelines issued by professional societies where clinical genetic tests are undertaken.5 This absence might result in the misinterpretation of test results, leading to adverse clinical and personal decisions such as unnecessary testing or harmful reliance on misinterpreted test results (e.g. undergoing prophylactic mastectomy, termination of pregnancy, and cessation of prescribed medication usage). While some DTC genetic testing companies require a physician's referral or deliver test results only via an authorised medical practitioner, many of them require no such authorisation, instead providing an unsatisfactory substitute for proper genetic counselling in the form of telephone or on-line counselling (Table 1, row 2). Despite these reservations DTC genetic testing has become a fast-spreading trend. New companies offering various direct testing services are rapidly emerging. In addition, this current trend has apparently ‘infiltrated’ the social sphere, as one of the most prominent DTC companies has held a publicity ‘spit party’ where attendees supplied saliva samples in vials for genetic analysis of various health conditions and predispositions.6 The objective, besides promoting the company's enterprise, was the creation of a social network based on individuals' genomes. II. POINTS TO CONSIDER REGARDING CONSUMPTION OF DTC GENETIC TESTS First, despite the possible educational value of DTC genetic tests (raising awareness of the significance of genetic testing and screening, and preventive medicine), DTC genetic tests should not be offered to an ill-prepared public. There is a disconcerting dichotomy between the empowered individual, encouraged by the ‘new genetics’ trend to initiate and make informed health choices,7 and the genetic illiteracy that characterises the general population, all within an unregulated genomic marketplace.8 The unique setting of DTC genetic testing has confused the well-defined roles of the patient and healthcare professional, often imposing professional decision-making on naïve laypersons. Consequently, the burden of an individual's responsibility for his or her health increases,9 while in parallel the responsibility of professional healthcare services lessens. Secondly, regrettably, healthcare professionals themselves often lack familiarity with the basic principles of genetics, thereby hindering the application of genomic advances into routine patient care.10 Furthermore, there is a perceptible lack of physicians and genetic counsellors trained in the field of genetics.11 It therefore seems advisable to invest in the education of healthcare professionals so that more of them will become proficient in the ‘language of genetics’.12 This education should not only focus on the basic principles of genetics, but also on clinical practice ethics, i.e. how to convey genomic information to tested patients, whether to withhold certain information from patients,13 share information with close blood relatives, and how to allow them and their relatives to exercise their right not to know. Thirdly, the growing demand for DTC genetic tests over the past few years14 might indicate that, in the post-genomics era, the public's genetic curiosity has dramatically increased. Moreover, direct genetic testing, which in effect renounces physician or counsellor involvement, makes genetic testing more accessible (though not always affordable) to a larger portion of the public. Fourthly, a cultural motivation for the consumption of DTC genetic tests is observed by Wolinsky,15 illustrating American society as having embraced a ‘do-it-yourself ethic’, and as one habituated in privately sponsored medicine, making America a fertile ground for both consumers and suppliers of DTC tests. III. ETHICAL AND LEGAL PERSPECTIVES OF DTC GENETIC TESTING DTC genetic tests raise a myriad of legal and ethical concerns, the major ones of which are concisely discussed here. A. Non-consensual Use of DTC Genetic Testing Non-consensual use of genetic testing pertains to unlawful actions, where genetic material (i.e. saliva left on a glass, hair follicles, etc.) is obtained, through collection or removal, without the consent of the (involuntary) ‘source’16 and consequently, the genetic information derived is used, without the source's consent, to his or her detriment, or to benefit others. Here follow three examples: X non-consensually obtains a saliva sample from Y's beer glass, analyses her DNA through a home-test kit, and sells to a newspaper (which publishes it) the information that Y has a particular genetic condition.17 The same process could be performed through a mail-order laboratory service, by shipping the wrongfully obtained genetic sample to a DTC company's laboratory, for a wider genetic scan. This could produce Y's genetic-profile, providing plentiful personal information. Should Y be a public figure, publicising information pertaining to her future health risks—her status as a carrier of the gene mutation linked to the early onset of Alzheimer's, for instance—entails an additional professional and monetary harm. Individuals opting for DTC genetic testing occasionally unknowingly contribute to medical research through the provision of their DNA to a testing company (Table 1, row 5). The samples, when provided to the company, are identified or identifiable. Therefore, they require the consent of their sources to be used and analysed in medical research.18 When such intent is not explicitly stated on the company's Internet site or incorporated into its service agreement/informed consent form, the customer is ignorant of such use of his or her DNA, and naturally does not consent to it. G, a 15-year-old minor, sends his genetic sample to an Internet-based DTC company, in order to have it analysed for Huntington's disease. He has a family history (his father has Huntington's disease) and he is, therefore, well acquainted with this horrendous condition. His parents have refused to allow him to take the test, or to consult a genetic counsellor to have his risk assessed.19 The company's on-line consent form, accepted by G, contains a disclaimer, according to which the consumer declares that he is an adult. Following the receipt of the test results by e-mail, confirming that G carries the gene for Huntington's disease, G commits suicide. These examples demonstrate how the unique setting of DTC genetic tests, namely highly accessible, potentially anonymous, and often free from the involvement of third parties (i.e. a physician or public health service), facilitates unlawful uses of the tests. The person supplying the non-consensually obtained sample for analysis could easily provide the DTC company with bogus details, falsely declaring himself to be its source, or to be legally competent to enter such a service. Without a referring physician or health service (as required in traditional genetic testing), the DTC company has no effective means of authenticating the personal details and the identity of the source. Thus, it is completely ignorant of the fact that it is aiding and abetting a particular customer in non-consensual use of genetic testing, for which it could potentially be held liable (where appropriate laws apply). Non-consensual use of genetic testing constitutes an intrusion on basic human dignity and autonomy, a violation of the source's bodily integrity, a breach of information privacy,20 and essentially deprives the source of the opportunity to exercise his right not to know particular genetic information. Such actions could involve physical harm or trespass to the person (battery), where samples are forcibly taken, as well as emotional harm, due to the intrusive act, unwarranted exposure, loss of privacy, and the discovery of unwelcome genetic information. Currently, there are no specific laws in the USA concerning non-consensual genetic testing. An appropriate criminal offence would probably facilitate the prosecution of individuals or corporations21 unlawfully obtaining a person's genetic material, analysing, and using it.22 A civil action23 would allow individuals, such as G's bereaved parents, to seek legal relief through filing a civil action against the DTC company for having non-consensually tested their minor child, i.e. without the authorised lawful consent of his legal guardians. Without appropriate legislation and with the increased use of DTC genetic testing, presumably some of the tests are being performed on illegally obtained DNA.24 The need for a specific offence/civil wrong relating to unauthorised, unlawful, or ‘deceitful obtaining and/or analysis of personal genetic information’25 was becoming clear, prior to the emergence of DTC genetic testing as an alternative to traditional genetic testing. Some jurisdictions have realised that the existing regulatory framework is indeed unsatisfactory, and that a specific offence is warranted. In the UK, non-consensual analysis of DNA, commonly known as ‘DNA theft’, constitutes an offence under the Human Tissue Act 2004.26 In Australia, it has been proposed27 that specific criminal offences of obtaining bodily material for genetic testing; use of bodily material for genetic testing; and disclosure or use of results of genetic testing, should be implemented. Until similar legislation exists in the USA, it would seem prudent for DTC companies voluntarily to adopt a policy requiring a physician's referral for the submission of samples for analysis (this could obviously not apply to home-test kits). This would, hopefully, promote authentication of the samples' source and ensure that legally incompetent persons would not be tested without the consent of their legal guardians. For comparative data on DTC companies' compliance with this direction, see Table 1, row 6. B. DTC Genetic Testing of Minors Genetic testing of minors is a sensitive issue. Particularly, disconcerting and contested is predictive genetic testing of children. Traditional conceptions regarding the predictive genetic testing of children, particularly for incurable adult-onset conditions, claimed that such practice was potentially harmful to minors. It has been argued that testing of this sort could cause emotional distress, resulting in psychological harm to the minor, adverse effects on the minor's self-esteem and self-perception, the loss of future adult autonomy, privacy and confidentiality, and limitation of a minor's future/horizons.28 Some of these conceptions are currently undergoing a transformation, occasionally even being overturned. This is due to the evolution of our perception of genomic information, as well as the recognition that in certain circumstances ‘the benefits of certainty outweigh the harms of ambiguity’.29 Therefore, learning genomic information (even such that confirms risk or positive diagnosis) could be liberating for the minor, ‘opening’ his or her future, possibly even providing valuable additional preparation.30 Guidelines published by both the UK Clinical Genetics Society (CGS)31 and the American Society of Human Genetics (ASHG),32 addressing the genetic testing of minors, generally established that such testing ought to promote their best interests and well-being. Both societies equally stated their opinion that predictive genetic testing of children is justified if there are evident medical benefits (such as pre-emptive or therapeutic medical treatment or diagnostic information relevant to a symptomatic child) that outweigh the risks of such tests. They also agree that testing pre-symptomatic children for adult-onset disorders and testing for carrier status (where the only relevance will be to future reproductive decisions) is inappropriate and should therefore be deferred until adulthood. Traditional, non-DTC genetic testing of minors is primarily a matter of parental discretion and consent. However, parental decision-making is usually challenged by professional service providers. This is to ensure that the decision whether or not to test reflects the minor's best interests and is not simply intended to relieve the parents' anxiety. Service providers professionally assess the putative benefits and harms of such testing with the aid of the aforementioned guidelines, prior to deciding whether genetically testing the particular minor is appropriate. Parents may obviously attempt to coerce service providers into performing such testing. However, not only can service providers not be forced to perform such testing if they believe it not to be in the minor's best interests; in fact, they could be held liable for malpractice should they endorse such testing contrary to the minor's welfare.33 This is not the case with DTC genetic testing, since it offers unrestrained access. The commercial availability of the tests inevitably makes them accessible to minors, or to parents wishing to test their children34 (Table 1, row 3). Thus, the latter can both circumvent parental objection to testing and the need for a physician order, and acquire the service commercially. Such uncontrolled access to genetic testing undermines the paternalistic protective measures designed to shield minors from the possibly harmful results of genetic testing. Hence, some would argue that a prohibitive stance should be adopted in any future specific DTC regulation, as it relates to this issue. 1. Should Minors' Access to DTC Genetic Testing Be Entirely Withheld? Minors wishing to be tested without parental consent or professional involvement could opt for DTC genetic testing. It is quite plausible that minors initiating such testing are mature adolescents, already aware to some extent of their particular family history and curious to learn about their genetic status. Should they be denied access to DTC genetic testing? In order to contemplate this issue, several observations need to be briefly stated: Emancipation of minors and the increasing value accorded to minors' autonomy and rights to consent to healthcare, as it relates to sexual activity (e.g. testing for sexually transmitted diseases, including HIV, and procuring contraceptives), substance abuse, and mental health care without parental consent35 cannot be overlooked in this context. As such, an analogy to genetic testing of minors can surely be made. Robertson and Savulescu contend36 that, contrary to traditional objections to the genetic testing of children (according to which, testing violates the child's future autonomy and is harmful to the child), the genomic knowledge acquired through the test actually promotes autonomy, in the sense that it advances autonomous decision-making and therefore self-governance and self-determination. Robertson and Savulescu also claim that genetic knowledge promotes the well-being of the child. This knowledge could therefore relieve the existing anxieties formerly hindering the child (in the case of negative results), or assist the child better to prepare for the future and make certain appropriate choices (in the case of positive results). Owing to insufficient research in this field, there is a lack of empirical evidence to support the claim that genetic testing might cause psychological harm.37 Specific information pertaining to how such tests affect children is required. There is evidence suggesting that children may actually better incorporate genetic information indicating risk into their self-identities, than do adults.38 Since carrier status testing is mainly relevant to reproductive decision-making and has little bearing on the health of the minor, Mulhaupt-Buell and others argue that in light of high rates of teenage pregnancies, access for sexually active/pregnant adolescents to testing for carrier status should be favourably considered.39 These developments in children's rights and autonomy, together with the above-mentioned evidence, suggest that under restricted circumstances minors should be allowed to be genetically tested, through non-DTC genetic tests even without parental consent. However, as the involvement and guidance of a genetic counsellor is too crucial to be spared, it seems that minors' access to DTC genetic testing—ought to be precluded. C. Genetic Discrimination ‘Genetic discrimination’ occurs when genomic information negatively affects a decision-maker's discretion, thus denying the person to whom the information pertains to something that he or she justly deserves. Such rhetoric is often used in the context of employment and health insurance (e.g. disqualifying employees, depriving employees of employment opportunities, unwarranted raising of insurance premiums, or denial of coverage, all on the grounds of genetic findings indicating disease, carrier status, or predisposition to various health risks). Such unlawful uses of personal genetic information are unacceptable or prohibited in most Western democracies, although not always properly regulated. Recently, the US legislature has enacted the Genetic Information Nondiscrimination Act 2008 (GINA).40 This Act now regulates this significant issue (until now poorly regulated by a patchwork of state laws and federal regulation) at the federal level. It protects against genetic discrimination in health insurance and employment based on the results of an individual's genetic testing, a family member's genetic testing, or upon manifestation of disease or disorder in family members of such any individual. Until now many American citizens have opted not to be genetically tested, fearing the risk of disclosure of their personal genetic information to health insurers and employers. This has had a negative double-effect: (a) impeding research (due to avoidance of participation in clinical trials producing genetic testing results, for fear of being genetically discriminated against), thus hampering to some extent, scientific-medical progress and (b) relinquishing genetic monitoring and preventive care, which could have provided benefit.41 It is unclear at this point whether or not the GINA will have any bearing on the current consumption habits of DTC genetic tests among Americans. Presumably, DTC genetic tests have been opted for as a ‘discreet’, interference-free means of acquiring personal genetic information, in the ‘pre-GINA’ period. Hence, the Act coming into force could either have no effect on the consumption of DTC tests, or it could foster a more favourable approach towards genetic testing in general, now that the threat of genetic discrimination has been lifted. D. DTC Genetic Testing and the Right not to Know The right not to know, where recognised,42 stems from the view that it is a person's choice and autonomous interest to protect oneself against potentially harmful and burdensome information concerning one's future health risks. Assuming we recognise that such a right exists, how do we realise it? How does one protect oneself from involuntarily learning genomic information that one does not wish to know? Andorno argues that the right not to know requires activating an explicit (autonomous) choice of not knowing.43 It need not be assumed by others. I concur with this view on the joint condition that: the patient in question is aware that the occasion has arisen for making such a choice, and that it is feasible to do so explicitly. In the case of DTC genetic testing, the problem with executing the said right is twofold: first, laypersons are generally unaware of the potential hazards of being exposed to such revealing and yet merely predictive and probabilistic information. Therefore, if the tested consumer is ignorant of such risks, how can he or she meaningfully exercise such a choice?44 Secondly, most DTC companies do not make this option of not knowing potentially harmful genomic information available to the tested individual, thus making it impossible for the person to exercise his or her right not to know. The few companies that do so (Table 1, row 4) should be encouraged by legislators and regulators, and other such service providers ought to follow their lead. Andorno further argues that the right not to know ought to operate exclusively within the doctor–patient relationship and that the onus for activating the said right should lie with the patient. This, however, could not be applied to DTC genetic testing. This is due to the distinguishing feature of such testing—the absence of genetic counselling and professional guidance, a prominent factor in ‘traditional’ genetic testing. While traditional genetic testing is limited to the doctor–patient sphere, DTC genetic testing operates within a wider, loosely defined sphere of service provider and consumer, lacking clear ethical guidelines. This development calls for an expansion of the scope within which any right not to know operates, as well as for the reversal of the onus of activating the said right from the consumer/patient to the DTC company. Therefore, the latter, with its abundant resources, will be liable for carefully disclosing sensitive or unforeseen genetic findings to the consumer. The company should be obligated to disclose the concrete risks of exposure to such revealing information, both for the individual and his or her blood relatives, after which the tested individual will be able to make an informed choice whether to know, or not to know. The proper way to ensure that such a liability materialises is through clear, coherent regulation that binds DTC companies responsibly to disclose genomic information. E. Privacy and Confidentiality of Personal Genomic Information DTC genetic testing facilitates the collection and gathering of DNA samples from the extensive DTC-tested population. Thus, DTC companies are provided with an abundance of genetic samples and related data—a highly valuable resource for scientific-medical research (Table 1, row 5). Consequently, unregulated bio- and data banks are being formed by private for-profit corporations, with no clear binding guidelines vis-à-vis protection of privacy and confidentiality of the information they hold. With the absence of uniform, specific regulations for DTC genetic testing,45 or privacy protection of genomic information, DTC companies form their own voluntary policies regarding storage and security of said samples and data. The main obstacle lies where genomic information and samples—collected through DTC genetic tests and intended for medical research, or commercial arrangements with researchers and pharmaceutical companies—remain identifiable. As a result, sensitive genomic information relating to the tested individuals and their community can be revealed, breaching privacy, and/or stigmatising the community. DTC companies often fail to emphasise these associated risks, leaving tested individuals entirely unaware of them. Obviously, an individual could explicitly and voluntarily forfeit his or her right to genetic privacy, as have the participants in the Personal Genome Project46 conducted at Harvard University (worth mentioning here is the fact that doing so indirectly compromises the privacy of one's relatives).47 However, as a general rule, people opt closely to guard their genetic privacy. To ensure the protection of the consumer's privacy, effective legislation is required, applying in particular, to private corporations.48 It should be noted that the protection provided by the newly enacted GINA for personal genetic information is insufficient, as it applies exclusively within the narrower context of protection against genetic discrimination in employment and health insurance. Its emphasis is not protection of genetic privacy, in general. It would therefore seem advisable, that apart from regulation, genetic privacy will also be safeguarded through another, more specific, instrument—a contract, as argued by Robertson.49 It could make good sense, given that the contractual relations between the company and the consumer are at the core of DTC genetic testing. Such contracts should incorporate detailed stipulations regarding privacy protection including who will have access to the genetic samples and the information derived from them, and how they will be stored and secured. F. Misleading Consumers of DTC genetic services Individuals purchasing DTC genetic services may possibly be misled by statements of service providers concerning the service supplied by them, by misrepresentation of test results, or by the wording of their advertisements. Those often promise insightful knowledge and provision of risk assessment tools, while occasionally neglecting to mention the quality of genomic information (uncertain, probable), and the risks that unsolicited exposure to such information entails.50 Here are two examples: DTC advertising (DTCA), frequently used by DTC genetic testing companies to promote their sales, is also occasionally misleading. The wording of such advertising often overstates the efficacy of the tests and their merits, while downplaying their shortcomings. DTCA is broadly prohibited in most jurisdictions, as far as prescription drugs are concerned. However, the application of DTCA prohibition to DTC genetic tests is questionable, as the latter are more closely categorised as ‘medical devices’. In the USA—seemingly, the most prominent provider of such tests—DTCA is permitted,55 making consumer protection an arduous task. In February 2006, a class action lawsuit was filed in the US District Court of Massachusetts against Acu-Gen Biolabs, a company manufacturing and supplying baby-gender test kits.51 The lawsuit raised claims of misrepresentations (the validity of the 99% accuracy statement was challenged, as well as the scientific support for such statement), fraud, and other improper business practices. It was filed following a substantial number of failures accurately to predict the gender of unborn babies, and the company's consequent refusal to uphold its refund guarantee.52 (In February 2008, the plaintiffs filed a motion to enforce a settlement agreement reached, and/or to enter a default judgment against the defendants); In July 2006, the US Government Accountability Office (GAO)53 presented the findings of its examination of ‘nutrigenetic’ tests, purchased from Internet web sites. The findings demonstrated that the tests—seemingly designed to customise the consumer's diet and lifestyle to his or her genetically determined health risks—render meaningless results, provide un-asked for predictions of medical conditions that are medically unproven, and fail to provide results that offer recommendations based on the consumer's unique genetic profile.54 Such tests in fact, mislead consumers. As the industry of DTC genetic services is relatively new and, therefore, only partially regulated, consumer protection is sub-optimal.56 Complementary measures, such as consumer forewarning, are also valuable and indeed, the US Federal Trade Commission (FTC) released a statement in July 2006, cautioning consumers against over-enthusiastic use of at home genetic tests and recommending different protective measures against misinformation, misinterpretation, and breach of privacy.57 The fact that DTC genetic services are largely marketed and promoted through the Internet further weakens effective consumer protection. The Children's Online Privacy Protection Act 1998 (US)58 is an Act intended to protect the privacy of minors under 13 by providing parents with tools to control what information is collected from their children online. The Act requires operators of commercial websites and online services, inter alia, to obtain verifiable parental consent before collecting a child's personal information. A few Internet-based DTC genetic testing companies have already adapted their policy accordingly (Table 1, row 3). Whether this is an effective measure for protecting minor consumers of online DTC genetic services is doubtful, since it is debatable whether 13–16-year-old children should be allowed to procure such DTC testing at all, even with parental consent. IV. REGULATION, CONTROL, AND ENFORCEMENT DTC genetic testing is (as yet) poorly regulated and loosely controlled in all Western jurisdictions. In the USA, it is not regulated, per se, at the federal level although partially regulated at state level. According to a recent survey conducted by the Genetics & Public Policy Center,59 13 US states prohibit (mostly implicitly) DTC testing, while 26 states permit it (typically, state law is silent on the issue, rather than actively permitting it). The remaining 11 states permit DTC testing with limitations. Specific regulation pertaining to DTC genetic testing is therefore lacking. Federal oversight of the laboratories conducting genetic testing is limited as well. The Clinical Laboratory Improvement Amendments (CLIA),60 aimed at assuring quality laboratory testing, applies to all laboratory testing (except research) performed on humans in the USA.61 However, the regulations, issued in 1992 by the Centers for Medicare and Medicaid Services (CMS; the entity responsible for regulating and implementing CLIA), do not incorporate a ‘specialty area’ for genetic testing, then still in its infancy. Consequently, genetic testing laboratories are not required to conduct proficiency testing.62 That results in poor scrutiny of DTC laboratory-developed genetic tests, namely limited oversight of their analytical validity, and practically no oversight of their clinical validity.63 As their safety and accuracy are impaired, the consumer's confidence in DTC tests is respectively undermined. Such form of licensing is pertinent to DTC tests, where no healthcare provider is involved and objective assurances are much needed. It should be mentioned, however, that the principal DTC genetic testing companies proclaim on their websites that their laboratories are CLIA certified and/or that the results ‘have been analytically validated according to CLIA standards’.64 Evidently, obtaining such licences or meeting their standards, is an important ‘quality stamp’ for such companies. With regards to self-testing kits (the major share of DTC genetic tests), it is unclear which of them go through pre-market scrutiny or approval by the US Food & Drug Administration (FDA), in order to ensure their safety and effectiveness.65 It seems that, consequently, genetic testing is left to its own devices. In the absence of harmonised regulation, professional societies such as the American College of Medical Genetics (ACMG) and the American Society of Human Genetics (ASHG) have opted to fill the lacuna by proposing their own voluntary standards.66 In June 2008, the California Department of Public Health issued warning letters to 13 companies providing personal genomics services, among which were Navigenics, 23andMe, and Illumina, informing them that under California law, offering a clinical laboratory test directly to the consumer, without a physician order, is prohibited. The companies were required to obtain the necessary licensing from the Department as well as a CLIA certificate and to comply with California laws regarding the test performance requirements. The New York State Department of Health has issued similar notices to cease and desist to 31 genetic testing companies, starting the previous November.67 These actions might indicate a change in state policy regarding DTC companies' activity. It is quite plausible that other states will follow the pioneering activist policy of the states of New York and California, although I would argue that this does not preclude the need for harmonised federal regulation. The EU has partially regulated the issue at hand, through the Medical Device Directive and the In Vitro Diagnostic Device Directive.68 In the UK, the aforementioned EU directives apply, along with the Medical Devices Regulations 2002.69 As this form of regulation seemed insufficient, two comprehensive reports were submitted by the Human Genetics Commission,70 recommending stricter controls on direct genetic testing; that most genetic tests providing predictive health information should not be offered as DTC tests; and opposing statutory prohibition. They also called for the development of a code of practice. This call was later reinforced by the House of Lords Science and Technology Committee report on genomic medicine which favoured regulating the selling of DTC genetic tests, through the development of a voluntary code of practice, in conjunction with the genetic testing industry.71 A comprehensive consultation paper recently prepared by the HGC, attempts to consolidate good practice principles for the provision of DTC genetic testing services, which will have general applicability across all jurisdictions, given the cross-border provision of DTC genetic services.72 It would seem that this ‘soft’ law mechanism (namely a code-of-practice) was found preferable in the UK, to that of ‘hard’ laws, regarding DTC genetic tests. An example of such ‘hard’ law could be found in Germany's recent enactment of the Human Genetic Examination Act (Genetic Diagnosis Act—GenDG) (‘Gendiagnostikgesetz’),73 a strict law on genetic testing that has come into effect in February, 2010. The Act essentially outlaws DTC genetic testing. It stipulates that genetic testing will only be carried out by medical doctors (section 7), after obtaining the individual's informed consent (section 8) and following detailed counselling (section 10). It also requires that results of such testing shall be disclosed only to the individual by the ordering physician (section 11). The Act outlaws non-consensual DNA testing by requiring the receipt of an explicit, written consent of the individual, both to genetic testing and sampling, by the responsible physician (section 8(1))74 and bans, inter alia, anonymous paternity tests (requiring the consent of all the parties involved).75 Such an unequivocal position against DTC genetic testing, while desired to some extent, reflects a rather restrictive, conservative view towards personal genetic information, manifested by the German legislature throughout the Act.76 This fact has already provoked some fierce criticism, referring to it as a ‘policy of genetic exceptionalism enforced by paternalistic regulation’.77 A. DTC Genetic Testing Services and Internet Jurisdiction A substantial amount of genetic testing services is being offered directly to the public, through electronic commerce, over the Internet,78 posing complex problems of jurisdiction and conflict of laws. Internet jurisdiction is an intricate issue, still in its infancy. Its regulation is not harmonised at the international level, and court rulings vary from state to state and occasionally contradict one another.79 Thus, a consumer wishing to bring a claim against an Internet-based DTC testing company might find that selecting the appropriate forum where personal jurisdiction could be asserted over the company, is a difficult business. Many of these companies may be outside the jurisdiction of any one state and, therefore, not subject to national laws, making enforcement of the pertinent rules and regulations a challenging task.80 Internet-based DTC testing companies often include a forum selection clause, or exclude certain jurisdictions from litigation between the parties in their electronic consumer contract,81 to limit their international exposure. Such stipulations obviously favour the service provider and overburden the consumer (if, for example, he is forced to sue in an Icelandic court for harm allegedly caused by the use of a genetic service purchased over the Internet from his Florida home).82 Such conduct is contrary to the general rule strengthening consumer protection by conferring the jurisdiction of the consumer upon the company and applying the lex fori, the law of the consumer's domicile.83 This intricate issue of Internet law shall not be further elaborated here for lack of space. V. CONCLUSION Living in an era of growing ‘genetic curiosity’, where instant satisfaction is constantly sought, might explain, to some extent, the increasing demand for instantaneous DTC genetic tests. DTC genetic tests, however, cannot adequately substitute for traditional genetic testing without adaptation, particularly with regard to the essential component of expert genetic counselling. The tests are an enabling, informative tool to which access is practically uncontrolled. The genomic information revealed through the tests is potentially harmful, while the public is ill-prepared to assimilate it and reasonably act upon it. Particular emphasis should be placed on limiting access of minors to the tests. This paper has attempted to illustrate the complexity of the chief legal and ethical difficulties raised by DTC tests and the need of attention and specific regulation, given the legislative lacunae and unregulated market. As a final point, I believe that a complementary measure of educating the public about informed and rational consumption of DTC genetic tests ought to be implemented. This proposal stems from the belief that it is not public's scepticism, but rather its enthusiasm with regards to the consumption of the tests, that needs to be seriously addressed. Notes 1 In addition to being a highly complex and lengthy process, the cost of individual whole-genome sequencing is also extremely high ($250,000–$350,000), though recent research indicates that such sequencing could be accomplished for less than $50,000. This has led to the auspicious prediction that within a few years, an individual's whole-genome could be sequenced for the mere cost of $1,000, thus advancing towards the era of personalised medicine. G Feero, AE Guttmacher and FS Collins, ‘The Genome Gets Personal – Almost’ (2008) 299 (11) Journal of the American Medical Association 1351, 1352; D Pushkarev, NF Neff and SR Quake, ‘Single-molecule Sequencing of an Individual Human Genome’ (2009) 27 Nature Biotechnology 847. <http://www.nature.com/nbt/journal/v27/n9/full/nbt.1561.html> accessed September 13 2009; ‘Deciphering a person’s DNA ‘to cost $1,000” Telegraph.co.uk (London August 11 2009). <http://www.telegraph.co.uk/science/science-news/6008752/Deciphering-a-persons-DNA-to-cost-1000.html> accessed September 13 2009; N Wade, ‘Cost of Decoding a Genome Is Lowered’, NYTimes (New York August 10 2009). <http://www.nytimes.com/2009/08/11/science/11gene.html?_r=1&8dpc>, accessed September 13 2009. 2 Ibid, Feero, Guttmacher and Collins. 3 M Levitt, ‘Let the consumer decide? The Regulation of Commercial Genetic Testing’ (2001) 27 Journal of Medical Ethics 398, 401. 4 See the US Government Accountability Office (GAO) report on ‘Nutrigenetic Testing – Tests Purchased from Four Web Sites Mislead Consumers’, Testimony before the Special Committee on Aging, U.S. Senate (Washington, D.C., US GAO, July 2006) 2, 7, 13, 18, 22. 5 See American College of Medical Genetics (ACMG), ‘ACMG Statement on Direct-to-consumer Genetic Testing’ (2004) 6(1) Genetics in Medicine 60; American Society of Human Genetics (ASHG), ‘Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents’ (1995) 57 American Journal of Human Genetics (AJHG) 1233–41 <http://www.ashg.org/pages/statement_ajhg57.shtml> accessed May 14 2009; EuroGentest, ‘Recommendations for genetic counselling related to genetic testing’, <http://www.eurogentest.org/web/info/public/unit3/final_recommendations_genetic_counselling.xhtml> accessed May 14 2009. 6 A Salkin, ‘When in Doubt, Spit It Out’ The New York Times (New York September 14 2008). 7 R Kukla, ‘How Do Patients Know?’ (2007) 37(5) Hastings Center Report 27–35; A Petersen and R Bunton, The New Genetics and the Public's Health (Routledge, London, UK; New York, NY, 2002) 5, 36. 8 B Prainsack and others, ‘Misdirected Precaution’ (2008) 456 (6) Nature 34–5. 9 Ibid. 10 Feero (n 1 at 1352). 11 Ibid.; A Silversides, ‘The Wide Gap Between Genetic Research and Clinical Needs’ (2007) 176(3) Canadian Medical Association Journal 315, 315; Parliamentary Office of Science & Technology, Postnote, ‘NHS Genetic Testing’, no. 227, July 2004 at 4<http://www.parliament.uk/documents/upload/POSTpn227.pdf> accessed May 14 2009. 12 Noteworthy is the pilot program launched by UK's National Health Service to increase physicians' genetic knowledge. See ‘NHS Starts Pilot Program to Increase Doctors’ Genetics Knowledge, GenomeWeb Daily News (New York July 30 2009). <http://www.genomeweb.com//node/921347?emc=el&m=454233&l=1&v=b2e49a1771> accessed May 14 2009. 13 AL McGuire and others, ‘The Future of Personal Genomics’ (2007) 317 Science 1687. 14 (UK) Human Genetics Commission (HGC), More Genes Direct, December 2007, at 3. 15 H Wolinsky, ‘Do-it-yourself Diagnosis’, (2005) 6(9) European Molecular Biology Organization Reports 805, 806. 16 I use, for the purposes of this section, the term ‘source’ in order to avoid contended questions of ownership (‘owner’), and as the term ‘donor’ does not seem appropriate in such involuntary context. 17 HGC, Inside Information: Balancing Interests in the Use of Personal Genetic Data, 2002, at 60. <http://www.hgc.gov.uk/insideinformation/iichapter3.pdf> accessed May 21 2009. 18 World Medical Association (WMA) Declaration of Helsinki – Ethical Principles for Medical Research Involving Human Subjects (adopted by the 18th WMA General Assembly, Helsinki, Finland, June 1964) (as amended); The Belmont Report – Ethical Principles and Guidelines for the protection of human subjects of research, The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research, April 18 1979. (in the USA); EC Treaty (Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights & Biomedicine, April 4 1997) (in EU countries); ICH Harmonised Tripartite Guideline for Good Clinical Practice E6(R1), (ICH-GCP Guidelines for Clinical Trials (1997) (new codification November 2005)); Code of Federal Regulations (CFR), Title 45, Part 46, Protection of Human Subjects, effective June 23 2005. 19 Testing minors for predictive late-onset disorders is discussed in the next part of this paper. 20 Australian Law Reform Commission (ALRC) and Australian Health Ethics Committee (AHEC), Essentially Yours: The Protection of Human Genetic Information in Australia, ALRC Report No 96, 2003 para 12.17 <http://www.alrc.gov.au/inquiries/title/alrc96/index.htm> accessed May 11 2009; Model Criminal Law Officers' Committee of the Standing Committee of Attorneys-General, Non-Consensual Genetic Testing Discussion Paper, November 2008 <http://www.ag.gov.au/www/agd/rwpattach.nsf> accessed May 11 2009. 21 It is reasonable to assume that for practical reasons some state authorities, such as the police, will be permitted to make use of non-consensual genetic testing. See e.g. Human Tissue Act 2004 s 39 (England and Wales). 22 Ibid., s 2, Sch 4, s 45 pt 1, s. 2(2). 23 For an insightful discussion of the various implications of a criminal offence of non-consensual genetic testing versus a similar civil action, see L Skene, ‘Theft of DNA: Do We Need a New Criminal Offence?’ in J Gunning and S Holm (eds), Ethics Law and Society, Vol. 1 (Ashgate Publishing Ltd, UK 2005) 95–94. 24 Editorial, ‘Genetic Privacy and Piracy’, 2009 11(5) Nature Cell Biology 509. 25 HGC, Inside Information (n 17 at 62, para 3.61); Ibid., L Skene, ‘Theft of DNA’, Ethics Law and Society. 26 Human Tissue Act 2004 s 45. And see the Human Tissue (Scotland) Act 2006. Of interest is the reference to this matter in the HGC recent consultation paper on DTC genetic testing services: ‘Companies offering direct-to-consumer genetic tests should be aware of the laws that exist in some countries prohibiting DNA theft, which make it illegal to obtain or test DNA without the consent of the person from whom it originated. […] Requests to recover DNA for genetic testing purposes from secondary objects or materials should raise suspicion and should be declined’. HGC, A Common Framework of Principles for direct-to-consumer genetic testing services, September 8 2009, s 5.8, at 12. <http://www.hgc.gov.uk/UploadDocs/DocPub/Document/Principles%20consultation%20final.pdf> <http://www.opsi.gov.uk/ACTS/acts2004/ukpga_20040030_en_1> accessed September 14 2009. 27 A discussion paper on non-consensual genetic testing was released by the Standing Committee of Attorneys-General on November 2008, for public consultation (the closing date for consultation comments was January 31 2009) <http://www.ag.gov.au/www/agd/agd.nsf/Page/Modelcriminalcode_Non-ConsensualGeneticTestingDiscussionPaper> accessed May 12 2009. 28 PJ Malpas, ‘Predictive Genetic Testing of Children for Adult-Onset Diseases and Psychological Harm’ (2008) 34 Journal of Medical Ethics 275; B Wilfond and L Friedman Ross, ‘From Genetics to Genomics: Ethics, Policy and Parental Decision-making’ (2009) 34(6) Journal of Pediatric Psychology 639–47. 29 Ibid., Wilfond, at 641. 30 Ibid. 31 Working Party of the Clinical Genetics Society (UK), ‘The Genetic Testing of Children’ (1994) 31 Journal of Medical Genetics 785–97. 32 ASHG, ‘Points to consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents’ (1995) 57 AJHG 1233–41 <http://www.ashg.org/pages/statement_ajhg57.shtml> accessed May 14 2009. 33 Working Party of the Clinical Genetics Society (n 31 at 788–9). 34 Some DTC genetic testing companies require consumers to sign a disclaimer declaring they are over the age of 18 (which there is no way to confirm), while others ignore the issue altogether. 35 H Boonstra and E Nash, ‘Minors and the Right to Consent to Health Care’ (2000) 3(4) The Guttmacher Report on Public Policy <http://www.guttmacher.org/pubs/tgr/03/4/gr030404.html> accessed May 14 2009. 36 S Robertson and J Savulescu, ‘Is There a Case in Favour of Predictive Genetic Testing In young Children?’ (2001) 15(1) Bioethics 26, 42–3. 37 Ibid., at 44. 38 Wilfond (n 28, at 641); TJ Multhaupt-Buell and others, ‘Genetic Service Providers’ Practices and Attitudes Regarding Adolescent Genetic Testing for Carrier Status' (2007) 9(2) Genetics in Medicine 101, 106. 39 Ibid., Multhaupt-Buell. 40 Genetic Information Nondiscrimination Act 2008, H.R.493, P.L. 110–233 (2008). 41 ‘Genetic Information Nondiscrimination Act Clears Senate, USA’ Medical News Today (April 25 2008) <http://www.medicalnewstoday.com/articles/105347.php> accessed April 29 2008; A Harmon, ‘Fear of Insurance Trouble Leads Many to Shun or Hide DNA Tests’ The New York Times (New York February 24 2008). 42 This is a controversial ethical issue: on one end of the spectrum there is bioethicist Rosamond Rhodes, who holds that being an autonomous agent entails an obligation to pursue relevant, fairly attainable, decision-affecting genetic information. Rhodes argues for a moral duty towards our fellow-man, deriving from blood ties and social bonds, to pursue such information. On the other end of the spectrum, there are those like Tuija Takala, who advocates the right to genetic ignorance, arguing that ‘knowledge cannot be forced upon people’. See R Rhodes, ‘Genetic links, Family Ties, and Social Bonds; Rights and Responsibilities in the Face of Genetic Knowledge’ (1998) 23(1) Journal of Medicine and Philosophy 10, 18, 20, 25; T May and R Spellecy, ‘Autonomy, Full Information and Genetic Ignorance in Reproductive Medicine’ (2006) 89(4) Monist 466; T Takala, ‘The Right to Genetic Ignorance Confirmed’ (1999) 13(3/4) Bioethics 288, 292. 43 R Andorno, ‘The right not to know: an autonomy based approach’ (2004) 30 Journal of Medical Ethics 435, 437–9. 44 G Laurie, Genetic Privacy: A Challenge to Medico-Legal Norms (Cambridge University Press, Cambridge, UK, 2002), 211. 45 The issue of regulation, or rather the lack of it, will be discussed later on in this paper. 46 The Personal Genome Project—aimed at sharing identifiable personal DNA sequences, medical records, and other personal information with the research community and the general public. See <http://www.personalgenomes.org/>. 47 When the relative in question is a minor, the waiver of privacy ought to promote the well-being of the child or, at the very least, not to harm him or her. This provision would be rather difficult to ensure, as the genetic information of a parent is inevitably revealing of some aspects of the offspring's genetic makeup. 48 There is, upon GINA's (s 105) passage, an offense of wrongful disclosure of individually identifiable genetic information [under US Health Insurance Portability and Accountability Act (HIPAA) (s 1177)]. Such offense, could apply to DTC companies' engagement in scientific research collaborations, where personal information and data are transferred to third parties, for profit. However, HIPAA and relevant health privacy regulations may not apply to DTC companies since it is unclear whether they meet the criteria of ‘covered entities’ under HIPAA. Consequently, DTC consumers' genetic privacy might not benefit from the privacy protections awarded to patients' medical information obtained by covered entities. See Health Insurance Portability and Accountability Act of 1996, P.L. 104-191, 110 Stat. 1936 (1996), s 1177; <http://www.hhs.gov/ocr/privacy/hipaa/understanding/coveredentities/index.html> accessed May 21 2009; K Hudson and others, with the ASHG Social Issues Committee, ‘ASHG Statement on Direct-to-Consumer Genetic Testing in the United States’ (2007) 81(3) AJHG 635–7. 49 JA Robertson, ‘The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals’ (2003) 3(3) American Journal of Bioethics W35, W39. 50 It appears, however, that many DTC genetic services providers shy away now from such confident statements and guarantees. Those have been replaced with vague, cautious warranties, and ample disclaimers aimed at protecting the companies from potential legal actions alleging misrepresentations. Interestingly, this has not improved—it might even have worsened—the consumer's position, causing confusion instead of assurance. 51 See <http://www.babygenderinvestigation.com/uploads/Baby_Gender_Mentor_Filed_Complaint_-_3-1-06.pdf> accessed May 14 2009. 52 K Kaplan, ‘Accuracy of gender test kits in question’, Los Angeles Times (Los Angeles, February 24 2008); <babygenderinvestigation.com> accessed May 14 2009. 53 The US Government Accountability Office, the audit, evaluation and investigative arm of the American Congress. 54 GAO, Nutrigenetic Testing—Tests Purchased from Four Web Sites Mislead Consumers, Testimony before the Special Committee on Aging, U.S. Senate (Washington, DC: US GAO, July 2006) 2, 7, 13, 18, 22. 55 DTCA is permitted in New Zealand as well. 56 A more detailed account of the regulation and control of DTC genetic tests is provided in the next section. 57 FTC, Facts for Consumers: At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription (FTC, Washington, DC, USA), July 2006. 58 The Children's Online Privacy Protection Act of 1998 (15 U.S.C. §§ 6501–6506); this act is related to the FTC's consumer protection mission; <http://www.ftc.gov/ogc/stat3.shtm> accessed May 29 2009. 59 Genetics and Public Policy Center, Survey of direct-to-consumer testing statutes and regulations, June 2007 <http://www.dnapolicy.org/resources/DTCStateLawChart.pdf> accessed April 29 2008. 60 The Clinical Laboratory Improvement Amendments of 1988 (CLIA), P.L.100-578, 102 Stat. 2903 (1988). 61 <http://www.cms.hhs.gov/clia/> accessed April 29 2008; S Hogarth, G Javitt and D Melzer, ‘The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues’, 2008 (9) Annual Review of Genomics and Human Genetics, 161, 170. <http://arjournals.annualreviews.org/doi/pdf/10.1146/annurev.genom.9.081307.164319> accessed May 14 2009. 62 This is state-dependent, however. In California, for example, genetic tests are considered clinical lab tests under state law, therefore, subject to laboratory licensure law and standards. <http://www.cdph.ca.gov/programs/lfs/Documents/CLTAC%20minutes%2005Sep08.pdf> accessed January 8 2009. 63 Hudson (n 48). 64 See <http://www.decodeme.com/security-privacy>; <https://www.23andme.com/health/all/> accessed May 20 2009. 65 According to FTC's ‘At-Home Genetic Tests’ (July 2006), there is no such pre-market scrutiny of commercial test kits. However, according to the ASHG 2007 statement on DTC genetic testing—there is indeed such pre-market review of commercial test kits by the FDA. See FTC (n 59); Hudson (n 48, at 636). 66 H Wolinsky, ‘Do-it-yourself diagnosis’, (2005) 6(9) European Molecular Biology Organization Reports 805, 807; ACMG, ‘Statement on Direct-to-Consumer Genetic Testing’ (September 24 2007) <http://www.acmg.net/AM/Template.cfm> accessed January 10 2008; ‘ACMG Statement on Direct-to-Consumer Genetic Testing’ (April 7 2008). <http://www.acmg.net/AM/Template.cfm?Section=Policy_Statements&Template> accessed April 10 2008. Reading these statements, one should bear in mind that these professional groups represent genetic counsellors and geneticists, and while surely having the best interest of the public in mind, they are not interest-free in their opposing stance to the DTC genetic tests market. 67 M Wadman, ‘Gene-testing Firms Face Legal Battle’ (2008) 453 Nature 1148–9; A Pollack, ‘Gene Testing Questioned by Regulators’ The New York Times (New York, June 26 2008). <http://www.nytimes.com/2008/06/26/business/26gene.html> accessed July 10 2008; T Ray, ‘Will Other States Follow NY, Calif., in Taking On DTC Genetic-Testing Firms?’ Pharmacogenomics Reporter (June 25 2008) <http://www.genomeweb.com/dxpgx/will-other-states-follow-ny-calif-taking-dtc-genetic-testing-firms-0> accessed September 22 2009; <http://www.dnapolicy.org/resources/CA-NYfactsheet.pdf> accessed September 14 2008. 68 Medical Device Directive (MDD)—93/42/EEC; In Vitro Diagnostic Device Directive (IVDD)—98/79/EC. 69 Medical Devices Regulations 2002 (S.I. 2002 No. 618). 70 HGC, Genes Direct, March 2003; HGC, More Genes Direct, December 2007. 71 Science and Technology Committee, ‘Genomic Medicine’ HL (2008-09) 107-I 68-9. The Government response to the report, of December 2009, mostly referred to the HGC consultation paper discussed below. Government Response to the House of Lords Science and Technology Committee Inquiry into Genomic Medicine, Cm 7757, December 14 2009. < http://www.official-documents.gov.uk/document/cm77/7757/7757.pdf> accessed February 25 2010. 72 HGC, A Common Framework of Principles for direct-to-consumer genetic testing services, September 8 2009. <http://www.hgc.gov.uk/UploadDocs/DocPub/Document/Principles%20consultation%20final.pdf>; <http://www.opsi.gov.uk/ACTS/acts2004/ukpga_20040030_en_1> accessed September 14 2009. 73 Gesetz über genetische Untersuchungen bei Menschen (Gendiagnostikgesetz – GenDG). Gendiagnostikgesetz vom 31. Juli 2009 (BGB1. I S. 2529, (3672)). <http://www2.bgbl.de/Xaver/start.xav?startbk=Bundesanzeiger_BGBl&bk=Bundesanzeiger_BGBl&start=//*%5B@attr_id=%27bgbl109s2529.pdf%27%5D> For an unofficial English translation of the Act see: <http://www.eurogentest.org/uploads/1247230263295/GenDG_German_English.pdf.> accessed September 14 2009. 74 Violating this stipulation, whether negligently or with the intent to enrich oneself or harm others, constitutes an offence punishable by up to one - two years imprisonment, or corresponding fines (section 25(2)). 75 Editorial, ‘Genetic privacy and piracy’, 2009 11(5) Nature Cell Biology, 509. 76 The Human Genetic Examination Act also bans, inter alia, genetic tests for foetuses for adult-onset illnesses, or for purposes of sex selection. Ibid.; A Tuffs, ‘New German Law Bans Genetic Tests of Fetuses For Adult Illnesses’ (2009) 338 British Medical Journal b1753. 77 D Clark, ‘Genetic Exceptionalism and Paternalism Themes in new German Legislation’, Genomics Law Report (September 2 2009) <http://www.genomicslawreport.com/index.php/author/dclark/> accessed September 14 2009. 78 SA Gullust, BS Wilfund and S Chandros Hull, ‘Direct-to-consumer Sales of Genetic Services on the Internet’ (2003) 5(4) Genetics in Medicine 332–37. 79 See R Whitehead and P Spikes, ‘Determining Internet Jurisdiction’ (July 2003) The CPA Journal <http://www.nysscpa.org/cpajournal/2003/0703/features/f072403.html> accessed May 21 2009; L Peterson, ‘Comparing Internet Jurisdiction in the U.S. and the E.U.: A California Federal Case Illustrates the Contrast’ (May 19 2004) FindLaw <http://writ.news.findlaw.com/student/20040519_peterson.html> accessed May 21 2009; M Geist, ‘Is There a There There? Toward Greater Certainty for Internet Jurisdiction’ (2002) 16 Berkeley Technology Law Journal, 1345–406. 80 GH Javitt and K Hudson, ‘Fedreal Neglect – regulation of genetic testing’ (2006) 22(3) Issues in Science and Technology 59, 64. 81 See e.g. forum selection clauses in <https://www.23andme.com/about/tos/>; <http://www.navigenics.com/visitor/what_we_offer/our_policies/terms_conditions/> accessed May 24 2009. 82 See e.g. <http://www.decodeme.com/service-agreement> accessed May 18 2009. 83 LF Gillies, ‘Addressing the “Cyberspace Fallacy”: Targeting the Jurisdiction of an Electronic Consumer Contract’ (2008) 16(3) International Journal of Law and Information Technology 242, 248. © The Author [2010]. Published by Oxford University Press; all rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
TI - DIRECT-TO-CONSUMER GENETIC TESTING: ETHICAL–LEGAL PERSPECTIVES AND PRACTICAL CONSIDERATIONS
JF - Medical Law Review
DO - 10.1093/medlaw/fwq011
DA - 2010-04-01
UR - https://www.deepdyve.com/lp/oxford-university-press/direct-to-consumer-genetic-testing-ethical-legal-perspectives-and-TTzTbCT4Dm
SP - 213
EP - 238
VL - 18
IS - 2
DP - DeepDyve
ER -