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Miller, David T.; Lee, Kristy; Chung, Wendy K.; Gordon, Adam S.; Herman, Gail E.; Klein, Teri E.; Stewart, Douglas R.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; McKelvey, Kent;
Miller, David T.; Lee, Kristy; Gordon, Adam S.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Herman, Gail E.; Hershberger, Ray E.; Klein, Teri E.; McKelvey, Kent; Richards, C. Sue;
Rehder, Catherine; Bean, Lora J. H.; Bick, David; Chao, Elizabeth; Chung, Wendy; Das, Soma; O’Daniel, Julianne; Rehm, Heidi; Shashi, Vandana; Vincent, Lisa M.; ,
Tischkowitz, Marc; Balmaña, Judith; Foulkes, William D.; James, Paul; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Stewart, Douglas R.; Pal, Tuya; ,
Young, Jennifer L.; Mak, Julie; Stanley, Talia; Bass, Michelle; Cho, Mildred K.; Tabor, Holly K.
doi: 10.1038/s41436-021-01169-ypmid: 33972720
PurposeAsian Americans have been understudied in the literature on genetic and genomic services. The current study systematically identified, evaluated, and summarized findings from relevant qualitative and quantitative studies on genetic health care for Asian Americans.MethodsA search of five databases (1990 to 2018) returned 8,522 unique records. After removing duplicates, abstract/title screening, and full text review, 47 studies met inclusion criteria. Data from quantitative studies were converted into “qualitized data” and pooled together with thematic data from qualitative studies to produce a set of integrated findings.ResultsSynthesis of results revealed that (1) Asian Americans are under-referred but have high uptake for genetic services, (2) linguistic/communication challenges were common and Asian Americans expected more directive genetic counseling, and (3) Asian Americans’ family members were involved in testing decisions, but communication of results and risk information to family members was lower than other racial groups.ConclusionThis study identified multiple barriers to genetic counseling, testing, and care for Asian Americans, as well as gaps in the research literature. By focusing on these barriers and filling these gaps, clinical genetic approaches can be tailored to meet the needs of diverse patient groups, particularly those of Asian descent.
Brown, Elizabeth G.; Watts, Isabella; Beales, Emily R.; Maudhoo, Ashwini; Hayward, Judith; Sheridan, Eamonn; Rafi, Imran
doi: 10.1038/s41436-021-01149-2pmid: 33824502
PurposeThe COVID-19 pandemic has forced reorganization of clinical services to minimize face-to-face contact between patients and health-care providers. Specialist services, including clinical genetics, must consider methods of remote delivery including videoconferencing—termed telegenetics. This review evaluates the evidence for telegenetics and its applicability to future service development.MethodsA systematic review of six databases was conducted to identify studies from 2005 onward using synchronous videoconferencing to deliver clinical genetics services. Included studies compared telegenetics to an alternative method or used a before and after design.ResultsThirteen studies met the inclusion criteria (eight compared telegenetics to in-person consultations and three to telephone delivery). Patient satisfaction, genetic knowledge, and psychosocial outcomes were similar for in-person and telegenetic counseling. There was some evidence that telegenetics may be superior to telephone delivery for knowledge gain and reduction in anxiety and depression. There is limited evidence concerning the effect of telegenetics on provider satisfaction and behavioral outcomes. Conclusions are limited by at least moderate risk of bias in all evaluated studies and small sample sizes.ConclusionAcross most outcomes measured, telegenetics had equivalent outcomes to in-person appointment; however, the extent to which the available evidence is applicable to longer-term use is debatable.
López-Fernández, Adrià; Villacampa, Guillermo; Grau, Elia; Salinas, Mónica; Darder, Esther; Carrasco, Estela; Torres-Esquius, Sara; Iglesias, Silvia; Solanes, Ares; Gadea, Neus; Velasco, Angela; Urgell, Gisela; Torres, Maite; Tuset, Noemí; Brunet, Joan;
Jenkins, Brittany D.; Fischer, Catherine G.; Polito, Curt A.; Maiese, Deborah R.; Keehn, Alisha S.; Lyon, Megan; Edick, Mathew J.; Taylor, Matthew R. G.; Andersson, Hans C.; Bodurtha, Joann N.; Blitzer, Miriam G.; Muenke, Maximilian; Watson, Michael S.
doi: 10.1038/s41436-021-01162-5pmid: 33941882
PurposeThis study characterizes the US clinical genetics workforce to inform workforce planning and public policy development.MethodsA 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists.ResultsOf the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years.ConclusionWith the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.
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doi: 10.1038/s41436-021-01172-3pmid: 34012068
doi: 10.1038/s41436-021-01171-4pmid: 34012069
Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now cost-effective to analyze an individual with disease-targeted gene panels, exome sequencing, or genome sequencing to assist in the diagnosis of a wide array of clinical scenarios. While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve. To assist clinical laboratories with the validation of NGS methods and platforms, the ongoing monitoring of NGS testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics (ACMG) has developed the following technical standards.
PurposePALB2 germline pathogenic variants are associated with increased breast cancer risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health-care professionals managing PALB2 heterozygotes are currently limited.MethodsA workgroup of experts sought to outline management of PALB2 heterozygotes based on current evidence. Peer-reviewed publications from PubMed were identified to guide recommendations, which arose by consensus and the collective expertise of the authors.ResultsPALB2 heterozygotes should be offered BRCA1/2-equivalent breast surveillance. Risk-reducing mastectomy can be considered guided by personalized risk estimates. Pancreatic cancer surveillance should be considered, but ideally as part of a clinical trial. Typically, ovarian cancer surveillance is not recommended, and risk-reducing salpingo-oophorectomy should only rarely be considered before the age of 50. Given the mechanistic similarities, PALB2 heterozygotes should be considered for therapeutic regimens and trials as those for BRCA1/2.ConclusionThis guidance is similar to those for BRCA1/2. While the range of the cancer risk estimates overlap with BRCA1/2, point estimates are lower in PALB2 so individualized estimates are important for management decisions. Systematic prospective data collection is needed to determine as yet unanswered questions such as the risk of contralateral breast cancer and survival after cancer diagnosis.
doi: 10.1038/s41436-021-01157-2pmid: 33824504
PurposeTo identify predictors of patient acceptance of non-in-person cancer genetic visits before and after the COVID-19 pandemic and assess the preferences of health-care professionals.MethodsProspective multicenter cohort study (N = 578, 1 February 2018–20 April 2019) and recontacted during the COVID-19 lockdown in April 2020. Health-care professionals participated in May 2020. Association of personality traits and clinical factors with acceptance was assessed with multivariate analysis.ResultsBefore COVID-19, videoconference was more accepted than telephone-based visits (28% vs. 16% pretest, 30% vs. 19% post-test). Predictors for telephone visits were age (pretest, odds ratio [OR] 10-year increment = 0.79; post-test OR 10Y = 0.78); disclosure of panel testing (OR = 0.60), positive results (OR = 0.52), low conscientiousness group (OR = 2.87), and post-test level of uncertainty (OR = 0.93). Predictors for videoconference were age (pretest, OR 10Y = 0.73; post-test, OR 10Y = 0.75), educational level (pretest: OR = 1.61), low neuroticism (pretest, OR = 1.72), and post-test level of uncertainty (OR = 0.96). Patients’ reported acceptance for non-in-person visits after COVID-19 increased to 92% for the pretest and 85% for the post-test. Health-care professionals only preferred non-in-person visits for disclosure of negative results (83%).ConclusionThese new delivery models need to recognize challenges associated with age and the psychological characteristics of the population and embrace health-care professionals’ preferences.