Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Carrie L Blout Zawatsky^{1

2

3

4}, David Bick⁵, Louise Bier⁶, Birgit Funke⁷, Matthew Lebo^{2

8

9

10}, Katie L Lewis¹¹, Ekaterina Orlova¹², Emily Qian¹³, Lauren Ryan¹⁴, Marci L B Schwartz¹⁵, Emily R Soper^{16

17}

Affiliations

¹ Genomes2People, Brigham and Women's Hospital, Boston, Massachusetts, USA.
² Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
³ Ariadne Labs, Boston, Massachusetts, USA.
⁴ The MGH Institute of Health Professions, Boston, Massachusetts, USA.
⁵ Genomics England Ltd., London, UK.
⁶ Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.
⁷ Sema4, Stamford, Connecticut, USA.
⁸ Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁹ Department of Pathology, Harvard Medical School, Cambridge, Massachusetts, USA.
¹⁰ Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, Massachusetts, USA.
¹¹ Center for Precision Health Research, National Institutes of Health, Bethesda, Maryland, USA.
¹² Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
¹³ Department of Genetics, Yale University, New Haven, Connecticut, USA.
¹⁴ GRAIL, LLC, Menlo Park, California, USA.
¹⁵ Cardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁶ The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
¹⁷ Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

PMID: 36597794
DOI: 10.1002/jgc4.1654

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Carrie L Blout Zawatsky et al. J Genet Couns. 2023 Apr.

. 2023 Apr;32(2):281-299.

doi: 10.1002/jgc4.1654. Epub 2023 Jan 4.

Authors

Affiliations

¹ Genomes2People, Brigham and Women's Hospital, Boston, Massachusetts, USA.
² Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
³ Ariadne Labs, Boston, Massachusetts, USA.
⁴ The MGH Institute of Health Professions, Boston, Massachusetts, USA.
⁵ Genomics England Ltd., London, UK.
⁶ Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.
⁷ Sema4, Stamford, Connecticut, USA.
⁸ Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁹ Department of Pathology, Harvard Medical School, Cambridge, Massachusetts, USA.
¹⁰ Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, Massachusetts, USA.
¹¹ Center for Precision Health Research, National Institutes of Health, Bethesda, Maryland, USA.
¹² Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
¹³ Department of Genetics, Yale University, New Haven, Connecticut, USA.
¹⁴ GRAIL, LLC, Menlo Park, California, USA.
¹⁵ Cardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁶ The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
¹⁷ Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

PMID: 36597794
DOI: 10.1002/jgc4.1654

Abstract

Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.

Keywords: direct-to-consumer genetic testing (DTC); genetic counseling; genetic testing; population screening; predictive genetic testing.

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References

REFERENCES

1. 23andMe. (2019). A New 23andMe genetic health risk report brings to light underdiagnosed condition. https://blog.23andme.com/health-traits/a-new-23andme-genetic-health-risk...
1. AAP Committee on Bioethics, AAP Committee on Genetics, & American College of Medical Genetics Social Ethical and Legal Issues Committee. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics, 131(3), 620-622. https://doi.org/10.1542/peds.2012-3680
1. Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O'Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., Barr, M. L., Giovanni, M. A., Ritchie, M. D., Overton, J. D., Reid, J. G., Metpally, R. P., Wardeh, A. H., Borecki, I. B., Yancopoulos, G. D., … Murray, M. F. (2016). Genetic identification of familial hypercholesterolemia within a single U.S. healthcare system. Science, 354(6319), aaf7000.
1. Abul-Husn, N. S., Soper, E. R., Braganza, G. T., Rodriguez, J. E., Zeid, N., Cullina, S., Bobo, D., Moscati, A., Merkelson, A., Loos, R. J. F., Cho, J. H., Belbin, G. M., Suckiel, S. A., & Kenny, E. E. (2021). Implementing genomic screening in diverse populations. Genome Medicine, 13(1), 17.
1. Abul-Husn, N. S., Soper, E. R., Odgis, J. A., Cullina, S., Bobo, D., Moscati, A., Rodriguez, J. E., CBIPM Genomics Team, Regeneron Genetics Center, Loos, R. J. F., Cho, J. H., Belbin, G. M., Suckiel, S. A., & Kenny, E. E. (2019). Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Medicine, 12(1), 2. https://doi.org/10.1186/s13073-019-0691-1

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Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Affiliations

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources