Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries

Regier, Debra S.; Ferreira, Carlos R.; Hart, Suzanne; Hadley, Donald W.; Muenke, Maximilian

doi:10.1002/mgg3.343

Cited by 10 publications

(6 citation statements)

References 23 publications

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“…Genetic counseling certification requires training in medical genetics and counseling through 1) an ACGC (Accreditation Council for Genetic Counseling) accredited master's level program and 2) passing the ABGC (American Board of Genetic Counseling) certification examination. 23 From the clinical care standpoint genetic counselors are integral to interpreting tests, counseling patients and family members, and helping patients understand genetic disorders. 24 Based on 2017 data, the United States has more than 4,000 ACGC certified genetic counselors.…”

Section: Genetic Counselingmentioning

confidence: 99%

Bringing Prostate Cancer Germline Genetics into Clinical Practice

Das¹,

Salami²,

Spratt³

et al. 2019

Journal of Urology

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Purpose: Until recently the role of germline genetics in prostate cancer care was not well defined. While important questions remain, we reviewed the current understanding of germline genetic alterations related to prostate cancer. We discuss the clinical implications for genetic counseling, genetic testing, early detection and treatment in men with these mutations. Materials and Methods: We searched PubMedÒ for English language articles published since 2001 with the key words "germline mutations," "BRCA," "family history" or "prostate cancer genetics." We also used relevant data from websites, including the Centers for Medicare and Medicaid Services, National Comprehensive Cancer NetworkÒ, Bureau of Labor Statistics and National Society of Genetic Counselors websites. Results: A number of germline mutations in DNA damage repair genes (BRCA1, BRCA2, CHEK2, ATM and PALB2) and in DNA mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) can drive the development of prostate cancer. Careful genetic counseling coupled with multipanel gene testing can help identify men with these mutations and provide enhanced understanding of the disease risk. Cascade testing of family members can then have an impact extending well beyond the index patient. In men with a pathogenic germline mutation the optimal early detection paradigm is not well defined. Data from the IMPACT study (ClinicalTrials.gov NCT00261456) that the cancer detection rate is substantially elevated in BRCA1 and BRCA2 carriers at prostate specific antigen greater than 3 ng/ml has helped establish the importance of close prostate specific antigen screening in these men. Additionally, BRCA2 and likely other DNA damage repair mutations are associated with aggressive disease, although it is not yet clear how this impacts localized disease management. However, there is strong evidence that patients with metastatic, castration resistant prostate cancer who have DNA damage repair defects respond positively to targeting PARP enzymes. In many cancers there is also evidence that patients with an increased tumor mutational burden, such as in Lynch syndrome, are particularly sensitive to immune checkpoint inhibitors. Conclusions: Emerging evidence supports the implementation of germline genetic counseling and testing as a key component of prostate cancer management. Further research is needed to elucidate the clinical significance of lesser known germline mutations and develop optimal screening, early detection and treatment paradigms in this patient population.

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Section: Genetic Counselingmentioning

confidence: 99%

Bringing Prostate Cancer Germline Genetics into Clinical Practice

Das¹,

Salami²,

Spratt³

et al. 2019

Journal of Urology

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“…Healthcare specialties requiring genetic counseling have continued to increase over the past 60 years, as the profession grew to include counseling chromosome abnormalities, hemoglobinopathies, phenylalanine hydroxylase deficiency, and Tay‐Sachs disease among countless other genetic diseases (Bansal et al., 2010 ; Loader et al., 1991 ; Regier et al., 2017 ). Since the completion of the Human Genome Project (HGP) in 2003, the field of genetics and genomics has evolved to impact all areas of medicine; the role of the genetic counselor has expanded right along as demonstrated by the evolution of genetic counseling from a historical focus on rare Mendelian diseases to a broader practice of personalized medicine (Abacan et al., 2019 ; Hooker et al., 2020 ; Lander, 2011 ; Shelton & Whitcomb, 2015 ).…”

Section: A New Future For Genetic Counselingmentioning

confidence: 99%

COVID‐19 and the adaptive evolution of genetic counseling

Hassel¹,

Gilbert

Bejjani³

2022

Journal of Genetic Counseling

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Emerging diseases such as the Coronavirus Disease (COVID‐19) have exposed severe weaknesses in the United States and global health. Healthcare systems have struggled and are still severely challenged and strained by this pandemic. It is clear that additional resources are needed to support healthcare providers in managing this and future pandemics. Genetic counselors can play an important supporting role in this fragile ecosystem because their comprehensive and broad training makes them uniquely qualified to meet many of the challenges that arise when healthcare workers and patients are faced with novel diseases. This paper describes the recent involvement of a telegenetic counseling company (Metis Genetics) in communicating and explaining COVID‐19 serum antibody results to patients and physicians. This experience demonstrates how genetic counselors may be called upon to play a vital supporting role in the management of infectious disease pandemics. From May 2020 to July 2020, our genetic counseling telegenetics team was asked to provide support to more than 1,580 patients who underwent serum COVID‐19 antibody testing and to educate their healthcare providers on the performance properties of this new test. The genetic counselors were able to utilize their expertise to convey test results, information on Center for Disease Control and Prevention (CDC) recommendations, COVID‐19 fact‐based evidence, to provide psychological support and reassurance to patients, and to respond to providers questions about the test. This experience suggests that the genetic counselors’ skillset that has allowed the profession to continuously evolve can also be used in the management of pandemics by communicating directly with the public, supporting other healthcare workers, and assisting individual patients and families navigate the many medical and psychological issues caused by such events.

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“…Despite its recognized importance, number of medical geneticists and medical trainees entering clinical genetics is low, and approximately two-thirds of medical geneticists are approaching retirement age. [40][41][42] As of January 2018, the American Board of Medical Genetics and Genomics reported a total of n = 2937 diplomates (n = 1583 MD clinical genetics and genomics; n = 155 PhD medical genetics; n = 323 clinical biochemical genetics; n = 775 clinical cytogenetics and genomics; n = 743 clinical molecular genetics and genomics, and n = 49 clinical biochemical/molecular genetics; n = 63 medical biochemical genetics; n = 9 molecular genetic pathology). 43 To increase physician trainees entering this specialty, a number of career development strategies and educational framework mechanisms are proposed, with a particular emphasis on development of premedical undergraduate genomics curriculums.…”

Section: Workforce Developmentmentioning

confidence: 99%

Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems

Kurnat-Thoma

2020

Network and Systems Medicine

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Introduction: The precision medicine (PM) era presents unprecedented proliferation of genetic/genomic initiatives, information, and bioinformatic tools to enhance targeted molecular diagnosis and therapeutic treatments. As of February 29, 2020, the National Institutes of Health (NIH) National Center for Biotechnology Information (NCBI) Genetic Testing Registry contained 64,860 genetic tests for 12,268 conditions and 18,686 genes from 560 laboratories, and the Food and Drug Administration had 404 entries for pharmacogeneomic biomarkers used in drug labeling. Population-based research initiatives including NIH's All of Us and Veterans Affairs' Million Veteran Program, and the UK Biobank, combine use of genomic biorepositories with electronic medical records (i.e., National Human Genome Research Institute's [NHGRI's] electronic Medical Records and Genomics [eMERGE] Network). Learning health care systems are implementing clinical genomics screening programs and precision oncology programs. However, there are insufficient medical geneticists, nurse geneticists, and genetics counselors to implement expanding number of clinical genetic tests that are required for PM implementation. Methods: A scoping review of current (2014-2019) trends in U.S. genomic medicine translation, PM health care provider workforce education and training resources, and genomic clinical decision support (CDS) implementation tools was conducted. Results: Health care delivery institutions and systems are beginning to implement genetic tests that are driving PM, particularly in the areas of oncology, pharmacogenetics, obstetrics, and prenatal diagnostics. To ensure safe adoption and clinical translation of PM, health care systems have an ethical responsibility to ensure their providers and front-line staff are adequately prepared to order, use, and interpret genetic test information. Conclusion: There are a number of high-quality evidenced-based educational resources and CDS tools available. Strong partnerships between health care system leaders, front-line providers and staff coupled with reasonable goal setting can help drive PM translation interests.

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Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries

Abstract: Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.

Cited by 10 publications

References 23 publications

Bringing Prostate Cancer Germline Genetics into Clinical Practice

Bringing Prostate Cancer Germline Genetics into Clinical Practice

COVID‐19 and the adaptive evolution of genetic counseling

Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems

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