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

Abstract

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.

Consensus Statements on Precision Oncology in the China Greater Bay Area

“…Therefore, a multidisciplinary team of experienced medical educators should provide continuous medical education, including on-the-job training and evidence-based didactic pedagogy. 50 - 52 In addition, the MTB is an integral component of the didactic teaching of frontline physicians and scientists regarding the clinical relevance of NGS CGPs, reported genomic alterations, and the impact of PO on patient clinical outcomes by enhancing the understanding and utilization of advanced molecular diagnostics through the discussion of complex and noteworthy patient cases. 53 …”

Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

“…The participation of PCPs as key stakeholders in a primary care-based genetic screening program is imperative for scaling the safe and effective delivery of precision medicine [ 27 ]. Here we present the results of a mixed-methods study exploring PCPs’ experiences implementing the DNA-10K population genetic testing pilot program.…”

Advancing Precision Medicine in South Tyrol, Italy: A Public Health Development Proposal for a Bilingual, Autonomous Province

“…Language, literacy, culture, and availability of professionals are among the determining factors in the roll-out of precision medicine at the population level [ 29 ]. Given the bilingual nature of South Tyrol, medical professionals need to be proficient in both Italian and German [ 13 , 14 ].…”