Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes

Area of Science:

• Genetics
• Public Health
• Consumer Science

Background:

• Direct-to-consumer genetic testing (DTC-GT) is increasingly available, yet its adoption and comprehension within the general population are not well-documented.
• Previous investigations into DTC-GT use have been limited, necessitating further research into public awareness and engagement.

Purpose of the Study:

• To investigate the awareness, usage patterns, and motivations behind direct-to-consumer genetic testing among Danish citizens.
• To assess the public's understanding of DTC-GT results, particularly concerning disease risk interpretation.

Main Methods:

• A questionnaire survey was distributed to 2013 representative Danish citizens to gauge awareness and use of DTC-GT.
• Follow-up interviews were conducted with individuals who had undergone genetic testing to evaluate their comprehension of the results.
• A pilot study involving 2469 questionnaires preceded the main study to refine methodology.

Main Results:

• 45.4% of respondents were aware of DTC-GT, with 2.5% having used private DTC-GT and 5.8% having used public healthcare genetic testing.
• Primary motivations included curiosity (40.9%), ancestry (36.4%), and lifestyle advice (36.4%). Disease risk assessment was cited by 27.3%.
• Half of tested individuals reported concern post-test, and 17.4% consulted a general practitioner. Interviews revealed significant difficulties in interpreting genetic test results, especially differentiating between monogenic disease variants and multifactorial disease risks from SNPs.

Conclusions:

• While awareness of DTC-GT is substantial, actual usage is lower. Motivations are diverse, ranging from personal curiosity to health-related inquiries.
• A significant portion of DTC-GT users experience concern and seek professional medical advice, indicating potential psychological impact.
• There are clear challenges in public understanding of genetic test results, particularly regarding complex risk assessments for multifactorial diseases, highlighting a need for improved genetic literacy and result interpretation support.