Direct-to-Consumer genetic testing: what are we talking about?

Area of Science:

• Genetics
• Genetic Counseling
• Public Health

Background:

• Direct-to-consumer (DTC) genetic testing encompasses diverse testing categories.
• Concerns exist regarding large and small effect variants for disease predisposition.
• Key issues include clinical validity, utility, informativeness, and residual risk.

Purpose of the Study:

• To address the complexities of DTC genetic testing for disease-related variants.
• To highlight the role of genetic counselors in interpreting DTC results.
• To propose strategies for enhancing public understanding of DTC genetic information.

Main Methods:

• This is an editorial, thus no specific experimental methods were employed.
• The authors discuss existing challenges and propose educational and research-based solutions.
• Emphasis is placed on the expertise of genetic counselors in probability and statistical models.

Main Results:

• Genetic counselors possess the necessary training to address DTC testing complexities.
• Educational initiatives and professional development are recommended for genetic counselors.
• Continued research on DTC test access, usage, and empirical data collection is vital.

Conclusions:

• Genetic counselors can significantly improve public comprehension of DTC genetic test results.
• Integrating DTC concepts into graduate curricula and professional sessions is recommended.
• Practicing genetic counselors must critically evaluate DTC test claims to ensure optimal patient care.