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Results for “Genetic workforce”

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At least 19 recordsLinked to original sources

The 2023 medical genetics workforce in the United States.

PURPOSE: To characterize the 2023 medical genetics and genomics workforce in the United States-comprising clinical geneticists, genetic counselors, genetic nurses, genetic physician assistants, laboratory geneticists, and metabolic dietitians-to inform genetics workforce efforts. METHODS: National genetics membership or board-certification organizations distributed an electronic survey to medical genetics professionals in early 2023. Questions were derived from prior workforce surveys and by a workgroup led by the National Coordinating Center for the Regional Genetics Networks. RESULTS: Of the 3070 medical genetics professionals who responded, 66.0% were genetic counselors, 15.4% were clinical geneticists, 12.2% were laboratory geneticists, 4.7% were metabolic dietitians, and 1.7% were genetic nurses or physician assistants. The respondents identified as White (76.1%) and women (84.7%); there were statistically significant differences between disciplines. Forty percent worked in academic centers; 55.3% worked 41+ hours per week. Nearly 11% of respondents provided services in a language other than English. Despite 34.7% of respondents experiencing some burnout, most had no plans to leave the field (94.4%) within the next year. CONCLUSION: The medical genetics community needs to advance workforce initiatives to support current personnel and attract new and diverse individuals to the field to serve patients and their families.

Humans

Mainstreaming of clinical genetic testing: A conceptual framework.

PURPOSE: Demand for genetic testing is increasing across medicine, whereas the genetics workforce remains stable. In response, mainstreaming models are being introduced, in which nongeneticist clinicians are increasingly involved in the genetic testing pathway. Because a standardized approach would facilitate evaluation and optimal patient care, a unified framework is warranted. METHODS: Through a focus group with clinical genetics experts, a conceptual framework for the mainstreaming of clinical genetic testing is proposed. Through a consensus process, experts elucidated the steps in the diagnostic care pathway and defined a set of variables that influence which mainstreaming model is best suited to specific patient care scenarios. RESULTS: A total of 35 individuals representing 20 distinct clinical genetics services and all Canadian provinces participated in the development of the framework. The framework describes 4 generalizable mainstreaming models of care, each with varying levels of involvement of the clinical genetics service in the diagnostic care pathway. CONCLUSION: This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal utilization of genetics resources and improve patient care.

Humans

Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape.

PURPOSE: The global demand for clinical genome-wide sequencing (GWS) continues to grow. This study describes the global landscape of genetic service delivery and the barriers and facilitators to implementing clinical GWS. METHODS: A scoping review was conducted using MEDLINE and Embase (January 2009-July 2025) to identify studies related to genetic service delivery, exome and genome sequencing, and implementation. RESULTS: Ninety-six articles representing 35 countries were analyzed using the updated Consolidated Framework for Implementation Research. The most frequently reported barriers were within the outer setting: insufficient Local Conditions (ie, genetics workforce shortage; 54/96, 56%), limited Financing (29/96, 30%), and lack of national Policies and Laws (regulations) for genomic testing (20/96, 21%). Negative Local Attitudes about genomics were reported as a barrier in 11 South American, Middle Eastern, Asian, and African countries. Identified outer setting facilitators included Partnerships and Connections between interested parties (eg, government, academic institutions; 14/96, 15%) and dedicated Funding for national genomics initiatives (6/96, 6%). CONCLUSION: This scoping review identified common barriers to implementing GWS across countries with varying capacities for delivering these services. Findings may help countries to anticipate barriers, leverage facilitators, and develop strategies for implementing genomic testing and services.

Humans

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

PURPOSE: The increasing demand for genetic testing and a global shortage of geneticists has significantly strained health care systems worldwide. This highlighted the need for new strategies aiming to increase testing accessibility, reduce wait times, and enhance patient care quality. METHODS: We implemented a 4-step program, "Genetics First," to empower nongeneticist physicians (NGPs) to play an active role in the process of genetic consultation and testing. The steps included (1) establishing criteria to identify suitable clinical domains, (2) selecting clinical indications within the domain through expert panel review, (3) designing tailored education and workflows for NGPs across indications, and (4) monitoring test outcomes and providing further support for complex cases. Test outcomes were compared between NGPs and clinical geneticists. RESULTS: Endocrinology was selected as the first domain, with 114 endocrinologists who completed the program. During the study, 260 gene panels were performed for monogenic diabetes, with NGPs initiating 68% of tests, leading to a 107% increase in referrals. The diagnostic yield was 30%, with no significant difference between NGP- and clinical geneticist-initiated tests. CONCLUSION: This study demonstrates the feasibility and impact of involving NGPs in genetic testing, offering a paradigm shift that could expand access to genetic testing and improve patients' care and clinical outcomes.

Humans

Medical genetics.

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Genetic Counseling

Genetic counselor attitudes towards fetal sex identification and selective abortion.

Thirty-four prenatal genetic counselors (all but one non-M.D.s) in seven American cities were interviewed on attitudes which might plausibly affect counselor-client interchanges. They overwhelmingly endorse both non-directive counseling and the pro-choice ethos which supports a woman's absolute right to abortion in the early stages of pregnancy. However, they also overwhelmingly condemn using prenatal diagnosis for sex selection purposes. Therefore, counselors experience continual stress from clients who evoke the conflict inherent between these two stances. Counselors use a variety of coping mechanisms to minimize this cognitive dissonance. Avoidance through out-referral or invoking institutional policies forbidding prenatal diagnosis for sex selection purposes is a diminishing option and not possible with clients who have or offer a medical indication. More common is the use of psychological coping mechanisms. By elevating the ideals of non-directiveness and female autonomy counselors better tolerate client values in conflict with their own. Some redefine the category of 'unwanted pregnancy' to include fetuses of the 'wrong sex'; others redefine the problem as their own ethnocentricism. Empowering counselors to set the protocols they use to screen applicants for prenatal diagnosis would not remove these conflicts. Many counselors believe a ban on releasing fetal sex information while abortion is still a legal option would be organizationally or legally unacceptable, or a violation of patient automony. A complicating factor is that 60% of the counselors interviewed would prefer to know fetal sex in their own pregnancies. Counselors reflect the ambivalence of American society in balancing conflicting social goals.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Legal

Unacknowledged Burdens and Clinical Assets of BIPOC Genetic Counseling Students: Qualitative Evidence to Inform Supervision.

As the genetic counseling profession works to diversify its predominantly white workforce, understanding the experiences of Black, Indigenous, and People of Color (BIPOC) students is central to equity efforts. While BIPOC students bring invaluable cultural and linguistic diversity that improves patient care, they often navigate clinical training environments that lack diversity and psychological safety. This article draws on data from a longitudinal constructivist qualitative study to examine how racial and ethnic concordance (or lack thereof) with patients and clinical supervisors influenced the clinical training, professional development, and well-being of BIPOC genetic counseling students. Semi-structured interviews were conducted with 25 BIPOC genetic counseling students in the United States and Canada. Interviews were recorded using Zoom.us, transcribed using Rev.com, and analyzed in NVivo using reflexive thematic analysis. The analysis led to the construction of three themes: (1)Shared identity with patients is a clinical advantage: Participants leveraged their cultural and linguistic intuition to establish trust and rapport with patients; (2) Identity navigation involves cognitive and emotional labor: Participants shouldered an unacknowledged burden in managing stereotype threat, overcoming feelings of exclusion, and educating supervisors; and (3) Racial/ethnic identity shapes supervisory dynamics: Participants described BIPOC supervisors as providing identity-affirming support, while some white supervisors avoided discussions about identity or committed microaggressions. These results suggest that BIPOC genetic counseling students have clinical assets rooted in biculturalism, yet carry a burden that often goes unacknowledged of managing power imbalances and pressure to assimilate in predominantly white clinical supervision spaces. To promote equitable training, programs should implement supervisor training on culturally responsive identity broaching, establish independent, transparent mechanisms for students to report biases they encounter in clinic, and expand mentorship networks to provide additional support.

Humans

Genetic associates.

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Genetic Counseling

Medical genetics and genomics residency programs: Trends in applications, match rates, and matriculation from 2015 to 2024.

PURPOSE: This report analyzes Medical Genetics and Genomics (MGG) training trends from 2015 to 2024. Understanding such trends is vital for developing targeted recruitment and workforce development initiatives. METHODS: Matriculation data from the American Board of Medical Genetics and Genomics (ABMGG) and publicly available data from the National Resident Matching Program (NRMP) Main Residency and Specialty Matches were reviewed. Descriptive statistics and linear regression analysis were used to compare growth among MGG training pathways and to analyze trends. RESULTS: From 2015 to 2024, there has been a small, but not statistically significant, increase in the total number of individuals who have matched into categorical MGG, combined Pediatrics (Peds)-MGG, and combined Internal Medicine (IM)-MGG residency programs as a whole. This has been driven by an increase in the number of matches to combined Peds-MGG programs. Matriculation into training programs has exceeded the number of matches in categorical MGG as some positions have been filled outside of the NRMP Match. The average match rate for all applicants in categorical MGG (87%) has been higher than that for Peds-MGG (52%). CONCLUSION: Growth in applicants to combined programs and matriculation into residency programs after the NRMP Match has been promising; however, these increases are not enough to fulfill growing workforce demands.

Internship and Residency

Human radiation effect: an overview.

The author reviews late somatic and genetic effects of radiation exposure. Emphasis is on the human experience, but includes animal experience where necessary. Particular attention is directed to dose-response relationships, and to studies of low dose effects, where they exist. It is concluded that evidence is inconclusive with respect to effects in the range of exposures permitted by current radiation standards.

Abnormalities, Radiation-Induced

Translating evidence into practice: Developing Canada's first position statement on genomics-informed oncology nursing.

The integration of genomics in oncology care is accelerating in Canada, presenting new opportunities for nurses to improve cancer outcomes through enhanced screening, diagnosis, and targeted therapies. However, nurses have identified that they require policy guidance to clarify their roles and responsibilities as members of interprofessional teams delivering genomic services. In response, the Canadian Nursing and Genomics Initiative, in collaboration with the Canadian Association of Nursing in Oncology/Association Canadienne des Infirmières et Infirmiers en Oncologie, and an interdisciplinary working group developed the first pan-Canadian position statement to guide genomics-informed oncology nursing practice. To support further engagement and use of the position statement, we outline the rationale for developing the position statement and the role of position statements in supporting nursing practice and innovation in genomics-informed oncology nursing. We describe the governance structure and co-design methodology that facilitated its collaborative interdisciplinary development, and how this approach is critical for nursing advocacy, integrated knowledge translation, and ongoing engagement. Finally, we offer recommendations for oncology nurses to translate the position statement into practice changes. This position statement is a preliminary step toward advancing genomics integration in cancer care and ensuring nursing practice remains at the forefront of innovation.

genetics