Chapter 12: Ethical, Legal, Social Implications (ELSI) & Genetic Counseling
Chapter 12: Ethical, Legal, Social Implications (ELSI) & Genetic Counseling
Clinical whole-exome and whole-genome sequencing reveals the entirety of an individual's constitutional genetic makeup. Alongside the primary diagnostic reason for testing, sequencing inevitably uncovers unintended genetic insights: adult-onset cancer predispositions, non-paternity, carrier statuses, and neurodegenerative risks.
The ACMG mandates that laboratories performing clinical exome/genome sequencing offer to report pathogenic variants across a curated list of 81 medically actionable genes (ACMG SF v3.2), regardless of patient age or the original clinical indication. Conditions include:
- Hereditary Breast & Ovarian Cancer: BRCA1, BRCA2, PALB2
- Lynch Syndrome (Colorectal Cancer): MLH1, MSH2, MSH6, PMS2
- Familial Hypercholesterolemia: LDLR, APOB, PCSK9
- Cardiomyopathies & Arrhythmias: MYH7, MYBPC3, KCNQ1, SCN5A
Patients retain the ethical autonomy to opt out of receiving secondary findings prior to sequencing.
1. Legal Protections: The GINA Act
In the United States, the Genetic Information Nondiscrimination Act (GINA of 2008) legally prohibits health insurers and employers from discriminating against individuals based on genetic testing results. However, critical gaps remain: GINA does not apply to life insurance, disability insurance, long-term care insurance, or military healthcare.