How direct-to-consumer genetic testing changes the conversation about health

7 min

Options for direct-to-consumer genetic or genomic tests, conducted without health professional’s oversight, are increasing. Helping patients to interpret the results of direct-to-consumer tests can be challenging but understanding patients’ motivations for using the tests can be illuminating.

What is direct-to-consumer genetic or genomic testing?

Direct-to-consumer genetic and genomic tests might examine single genes, like the cystic fibrosis gene (CTFR), look for variations (single nucleotide polymorphisms or SNPs) in thousands of different genes, or use whole genome sequencing. They provide information about ancestry, traits, health risks, hereditary diseases, or optimisation of diet or medication based on genetic information.

The term ‘direct-to-consumer genetic test’ (DTC-GT) is generally used to describe tests that are ordered, conducted and reported without involving a health professional.

Men’s use of DTC-GTs

Not much is known about men’s use of DTC-GTs. It seems that Australian males are less likely than females to have a ‘personal genomic test’1, but US males are slightly more likely than females to have one (but are less likely to discuss their test results with a medical professional)2.

Concerns about DTC-GTs

When DTC-GTs first became available, concerns were expressed about the capacity of genetic counselling services to meet the anticipated demand3. Over 10 years, 11 Australian clinical genetics services received 114 referrals resulting from DTC-GTs4. In the majority the referrer was ‘unsure of the significance of the DTC-GT results’.

Information supplied by DTC-GT providers is complex and difficult for many people to understand5. The ‘genetic literacy’ (the ability to understand and make use of genetic information)3 of consumers and health professionals is regarded as insufficient for dealing with DTC-GTs, resulting in recommendations for improved education6.

The clinical utility of DTC-GTs is limited in some instances by their narrowness, and in others by their breadth8. Of the thousands of genetic variants that affect health, DTC-GTs measure only a few, potentially missing some that influence disease risk. This can give the impression that someone has no genetic risk when, in fact, they do. The reference genomes used as the basis for comparisons might also be too narrow, making results irrelevant to people of different ancestry8.

The breadth of DTC-GTs can be problematic if variations are detected in genes that have only minor consequences for disease risk or lack evidence-based management strategies3. Knowledge that you possess a genetic variation that confers increased disease risk, but lacks effective treatment, can cause distress or harm from unnecessary screening and treatment. 

Australian regulations essentially prevent the provision of health-related information (limiting interpretations to ancestry and traits) but there are many “third-party interpreters”, who provide health-related information from ‘raw data’ downloads of test results. Two-thirds of people who have a DTC-GT in the US use a third-party service to interpret their raw data9. These services suffer from the problems of narrowness and breadth mentioned above, in addition to concerns about consent and data privacy10.

For example, the Golden State Killer, Joseph D’Angelo, was arrested in 2018 based on genealogy performed using public databases from DTC-GTs, which initially identified a distant cousin11. D’Angelo may never have been identified without DTC-GTs, even though he never had one.

Practicalities of DTC-GTs

Healthcare professionals are concerned that people are misled and misinformed before choosing to undertake DTC-GTs12, which is not surprising since counselling before and after clinical genetic tests is the norm.

If GPs are presented with patient concerns arising from a DTC-GT, it’s best to encourage and respond to questions16. Patients should be reassured that the predictive value is low when there is no family history of disease, and that false positives are common15.

If a patient presents with a ‘positive’ result for a disease-causing gene variant identified by a DTC-GT, clinical genetic testing is necessary only if early disease detection and/or treatment are available; not if variants are not ‘clinically actionable’15. In most cases, explaining of the limitations of the results and counselling the patient about lifestyle modifications that reduce disease risk is suitable15, 16. Patients with ‘positive’ results and symptoms of disease should be investigated the same way as other patients without DTC-GT results15.

If health professionals know that patients have undergone a DTC-GT and received ‘negative’ results, it can be informative to enquire about their reasons for having the test in the first place. Some people may receive false negative results for heritable diseases that require more appropriate clinical investigations15.

DTC-GTs present an opportunity

Despite their limited clinical utility, DTC-GTs respond to people’s desire to take responsibility for their health and well-being. The conversations that emerge from patient enquiries about DTC-GTs can be illuminating for patients and health professionals, providing chances to discuss patients’ health concerns and ways to minimise risk and screen for disease. 


1. Savard et al., 2019. Australians’ views and experience of personal genomic testing: survey findings from the Genioz study. European Journal of Human Genetics

2. Carroll et al., 2020. Demographic differences in the utilization of clinical and direct‐to‐consumer genetic testing. Journal of Genetic Counseling

3. Trent, 2014. Direct-to-consumer DNA testing and the general practitioner. Australian Family Physician

4. Millward et al., 2020. Impact of direct-to-consumer genetic testing on Australian clinical genetics services. European Journal of Medical Genetics 

5. McBride et al., 2010. Consumers’ Views of Direct-to-Consumer Genetic Information. Annual Review of Genomics and Human Genetics

6. Rafiq et al., 2015. Direct-to-consumer genetic testing: a systematic review of European guidelines, recommendations, and position statements. Genetic testing and molecular biomarkers

7. Tandy-Connor et al., 2018. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetics in Medicine

8. Kilbride & Bradbury, 2020. The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad. JAMA

9. Wang et al., 2018. Consumer use and response to online third-party raw DNA interpretation services. Molecular Genetics & Genomic Medicine



12. Martins et al., 2022. Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns. European Journal of Human Genetics. doi:10.1038/s41431-022-01205-8


14. The Royal Australian College of General Practitioners, 2020. Genomics in general practice (

15. Horton et al., 2019. Direct-to-consumer genetic testing. BMJ

16. Brothers & Knapp, 2018. How Should Primary Care Physicians Respond to Direct-to-Consumer Genetic Test Results? AMA Journal of Ethics




Did you find this page helpful?

Information provided on this website is not a substitute for medical advice

Call 000 for emergency services

If you or someone you know needs urgent medical attention.

Call MensLine Australia on 1300 78 99 78 for 24/7 support

MensLine Australia is a telephone and online counselling service for men with emotional health and relationship concerns.

Sign up to our newsletter

We release two monthly newsletters – one written for men, family and friends, and another for health practitioners.

Your preferred mailing list

Your name

Your email

Stay up to date


Healthy Male acknowledges the traditional owners of the land. We pay our respects to elders past, present and future. We are committed to providing respectful, inclusive services and work environments where all individuals feel accepted, safe, affirmed and celebrated.


Healthy Male is funded by the Australian Government Department of Health and Aged Care. This website does not host any form of advertisement. Information provided on this website is not a substitute for medical advice.

Trusted information partner of