Privacy practices using genetic data from cell-free DNA aneuploidy screening

• Published in: Genetics in medicine Vol. 23; no. 9; pp. 1746 - 1752
• Main Authors: Parobek, Christian M., Russo, Melissa L., Lewkowitz, Adam K.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01-09-2021; Elsevier Limited
• Subjects: Aneuploidy; Biomedical and Life Sciences; Biomedicine; Cell-Free Nucleic Acids - genetics; Female; Genetic Privacy; Genetic Testing; Human Genetics; Humans; Laboratories; Laboratory Medicine; Pregnancy; Prenatal Diagnosis; Privacy; United States; United States
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1038/s41436-021-01205-x

Purpose
Cell-free fetal DNA (cfDNA) analyzes maternal and fetoplacental DNA, generating highly personal genetic information for both mother and fetus. This study aimed to determine how laboratories retain, use, and share genetic information from cfDNA. Other outcomes included laboratories’ adherence to American Society of Human Genetics (ASHG) privacy principles, and the readability of privacy policies.
Methods
Laboratories offering cfDNA aneuploidy screening were identified from online searches, curated databases, and a genomics news website. Of 124 laboratories identified, 13 were commercial laboratories offering cfDNA aneuploidy screening in the United States, and were included. Genetic privacy policies from eligible laboratories were identified by reviewing requisition and consent forms, which were obtained online or by direct contact.
Results
Most laboratories use prenatal genetic information for research (
n
 = 10, 77%), and more than half (
n
 = 7, 54%) shared genetic information with others. Overall, laboratories inadequately disclosed privacy risks. In a readability analysis, 9 of 11 (82%) laboratories’ genetic privacy policies were written at or above a 12th grade reading level.
Conclusion
Most laboratories allowed for prolonged use and sharing of cfDNA data, demonstrated incomplete adherence to ASHG privacy recommendations, and provided consents written in college-level language. Laboratories should revise their consent forms, and providers should help patients understand these forms.