The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Affiliations

¹ Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA.
² Department of Philosophy, University of South Carolina, Columbia, SC, USA.
³ GeneDx, Gaithersburg, MD, USA.
⁴ AZ State Team for Mountain States Regional Genetics Network, Chandler, AZ, USA.
⁵ Kaiser Permanente Northern California, Oakland, CA, USA.
⁶ Genomic Medicine Institute, Geisinger, Danville, PA, USA.
⁷ Spectrum Health/Helen DeVos Children's Hospital, Grand Rapids, MI, USA.
⁸ Michigan State University College of Human Medicine, Grand Rapids, MI, USA.

Free article

Theresa A Grebe et al. Genet Med. 2020 Sep.

Free article

. 2020 Sep;22(9):1431-1436.

doi: 10.1038/s41436-020-0841-2. Epub 2020 Jun 1.

¹ Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA.
² Department of Philosophy, University of South Carolina, Columbia, SC, USA.
³ GeneDx, Gaithersburg, MD, USA.
⁴ AZ State Team for Mountain States Regional Genetics Network, Chandler, AZ, USA.
⁵ Kaiser Permanente Northern California, Oakland, CA, USA.
⁶ Genomic Medicine Institute, Geisinger, Danville, PA, USA.
⁷ Spectrum Health/Helen DeVos Children's Hospital, Grand Rapids, MI, USA.
⁸ Michigan State University College of Human Medicine, Grand Rapids, MI, USA.

No abstract available

Keywords: autonomy; electronic health record (EHR); ethics; genetic/genomic information; privacy.

References

1. Tandy-Connor S, Guiltinan J, Krempely K, et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med. 2018;20:1515–1521. - DOI
1. US Department of Health and Human Services. Medicare and Medicaid programs; Patient Protection and Affordable Care Act; interoperability and patient access for Medicare advantage organization and Medicaid managed care plans, state Medicaid agencies, CHIP agencies and CHIP managed care entities, issuers of qualified health plans on the federally-facilitated exchanges, and health care provider final rule. 2020. 45 CFR Part 156. https://www.cms.gov/files/document/cms-9115-f.pdf . Accessed 24 March 2020.
1. Health Insurance Portability and Accountability Act. 110 STAT. 1936 PUBLIC LAW 104–91. 1996.
1. Walker J, Leveille S, Bell S, et al. OpenNotes after 7 years: patient experiences with ongoing access to their clinicians’ outpatient visit notes. J Med Internet Res. 2019;21:e13876. - DOI
1. Williams JL, Rahm AK, Zallen DT, et al. Impact of a patient-facing enhanced genomic results report to improve understanding, engagement, and communication. J Genet Couns. 2018;27:358–369. - DOI