How much do you know about the increasingly popular direct-to-consumer genetic testing? Find out with this 10-question quiz.
In recent years, direct-to-consumer personal genomic testing (DTC-PGT) has gained popularity with approximately 250 companies marketing tests that provide details on ancestry, wellness, genetic health risk, and more. Consumers can easily purchase these tests online without prior physician consultation. Primary care physicians (PCPs) are often the first to be approached about interpreting DTC-PGT results and some are more comfortable in the situation than others. How do you feel about the trend? How much do you know about DTC-PGT? Take our 10-question quiz to find out.
Question 1. In 2017, approximately how many people worldwide had their DNA analyzed with a DTC genetic genealogy test?
Answer: D. 12 million. According to an MIT Technology Review, the number of people who had their DNA analyzed with a DTC genetic genealogy test doubled during 2017 to >12 million. In the US alone, 1 in 25 adults have access to personal genetic data.
Question 2. In 2015, the FDA approved the first carrier screening test to be marketed to consumers for which of the above diseases?
Answer: C. Bloom syndrome. In 2015, the FDA announced the first approval of a genetic test from the widely popular DTC-PGT company, 23andMe. The FDA approved the marketing of their Bloom syndrome carrier screening test for the detection of the BLMAsh variant in the BLM gene from saliva collected using an FDA-cleared collection device.
Question 3. In 2017, the FDA approved the marketing of the first DTC genetic health risk test that screens for all of the above diseases, except which one?
Answer: A. T2DM. In 2017, the FDA approved marketing by 23andMe of its Personal Genome Service Genetic Health Risk test for Parkinson disease, late-onset Alzheimer disease, Gaucher disease type 1, celiac disease, alpha-1 antitrypsin deficiency, early-onset primary dystonia, factor XI deficiency, glucose-6-phosphate dehydrogenase deficiency, hereditary hemochromatosis, and hereditary thrombophilia; T2DM was not offered until 2019.
Question 4. Among DTC-PGT patient samples submitted to a clinical diagnostic lab for analysis of variant classification concordance, what percentage of variants reported in the raw data were false positives?
Answer: D. 40%. A 2018 analysis of 49 patient samples that had previously identified genetic variants in raw data from DTC-PGT found that 40% of variants were false positives after sample testing in a clinical diagnostic laboratory.
Question 5. True or false? DTC-PGT companies all test for the same set of genetic variants and provide the same results for the same diseases or conditions.
Answer: B. False. DTC-PGT companies do not all provide tests for the same set of variants, and therefore, results for the same type of diseases or conditions may differ among companies. Consumers are urged to use their own judgement when ordering a test and to see a qualified healthcare provider to better understand their results.
Question 6. In a large survey of PCPs, what percentage felt unprepared to answer patient questions regarding DTC-PGT results?
Answer: D. 85%. In a survey of 382 family and internal medicine physicians, 85% reported feeling unprepared to answer patient questions about DTC-PGT results.
Question 7. The same survey found that 74% of PCPs wanted to learn more about DTC-PGT. Which topic area/s were ranked the highest to learn more about?
Answer: D. All of the above. Among the 74% of PCPs who reported they wanted to learn more about DTC-PGT, 87.2% said they wanted to learn more about interpreting the results; 86.5% said they need access to evidence-based guidelines to manage risks identified by the results; and 84.7% said they need more information on the various tests being offered by private companies.
Question 8. True or false? A 2017 analysis of a 2012 longitudinal survey of consumers of DTC-PGT that focused on utilization of GCs, found that more consumers reported sharing their results with a genetic counselor vs their PCP.
Answer: B. False. An analysis of the 2012 PGen study, a longitudinal, survey-based study of >1800 consumers from the DTC-PGT companies 23andMe and Pathway Genomics, found that among 1026 consumers who indicated at 6 months whether or not they had sought GC after receiving their test results, 3% of consumers shared their results with a genetic counselor vs 29% who shared them with their PCP.
Question 9. True or false? Another 2017 analysis of the 2012 PGen Study that focused on consumer motivation, decision making, and perceived utility of results, found that at baseline, nearly three-quarters of consumers were as interested in their ancestry information as their disease risk.
Answer: A. True. Among the 1648 people who completed the baseline survey (taken after they purchased the PGT, but before they received results), 73.7% reported they were very interested in ancestry information and 71.9% in disease risk.
Question 10. The same 2017 analysis of the 2012 PGen Study found that at baseline, the greatest percentage of consumers were very interested in which of the above disease-specific risks?
Answer: B. Heart disease. Among the 1648 people who completed the baseline survey, 67.8% reported they were very interested in their risk of heart disease. Significantly fewer consumers reported being very interested in obesity (41.1%), kidney disease (36.9%), and asthma (29.7%).