Understanding Genomic testing
Genomic testing is a fast-growing area that according to reports was valued at $14791.51mil in 2021. This rapid growth has been attributed to the rising awareness regarding the early detection of genetic diseases and the adoption of advanced technologies (ReportLinker, 2022). Genetic testing has been primarily provided under the authorization and care of clinical providers such as doctors & hospitals (Javitt, 2008). However, recent advances in technology have brought about simpler and more cost-effective genetic testing with companies now offering direct-to-consumer (DTC) genetic tests to the general population. Genetic tests currently exist for approximately 2500 different medical conditions (Sherman, Shaw, Champion, Caldeira, & McCaskill, (2015).
Direct-to-consumer tests differ from traditional clinic-based genetic testing as they accessible outside the context of a medical facility (McBride et al., 2009) as well as being available to all individuals not just people with a medical referral. This means that there is no health professionals helping consumers understand their results which could lead to misinterpretation of results, false reassurances or psychological distress (Edwards & Huang, 2014)
Genomic testing has many applicable fields for individualised health practices including nutrigenetic/nutrigenomic testing. Nutritional genomics is a science studying the relationship between the human genome, nutrition and health. In Australia nutrigenetic tests are considered to be therapeutic goods and therefore must comply with the requirements of the TGA (therapeutic goods administration) act. This ensures they maintain accreditation as a medical testing laboratory by the National Association of Testing Authorities, Australia (TGA reference). This ensures the validity and accuracy of results for clinic-based genetic testing procedures. However, DTC testing may not necessarily be adhering to these standards set by the TGA as the companies and laboratories may not be in Australia, the lack of regulation can affect the validity, interpretation, accuracy of results with the potential for misinterpretation leading to false reassurance, distress and privacy issues which way limit protection from discrimination. Findings suggest that testing done with qualified practitioners has ability to clarify way in which different genetic mutations are characterized by different risk probabilities along with the meaning attributed to the risk probabilities (Trent, 2014) allowing for a better more educated interpretation of results thus reducing the concerns facing DTC testing (Sherman, et al. 2015).
While advances in the gene testing and nutrigenomic fields are progressing at a rapid pace there is still a lot left to discover and many gene nutrient interactions still do not have strong levels of evidence. For the public who are wishing to engage in testing are advised to error on the side of caution and work with a qualified health professional to mitigate any potential issues that may arise (Sherman, et al., 2015).
Reference list
Edwards, K. T., & Huang, C. J. (2014). Bridging the Consumer-Medical Divide: How to Regulate Direct-to-Consumer Genetic Testing. The Hastings Center Report, 44(3), 17–19. https://doi.org/10.1002/hast.310
Hogarth, S., Javitt, G., & Melzer, D. (2008). The current landscape for direct-to-consumer genetic testing: Legal, ethical, and policy issues. Annual Review of Genomics and Human Genetics, 9(1), 161–182. https://doi.org/10.1146/annurev.genom.9.081307.164319
Reportlinker may 2022, Globe newswire. Genetic Testing Market - Growth, Trends, COVID-19 Impact, and Forecasts (2022 - 2030) https://www.reportlinker.com/p06283178/Genetic-Testing-Market-Growth-Trends-COVID-19-Impact-and-Forecasts.html?utm_source=GNW
Sherman, K., Shaw, L.-K., Champion, K., Caldeira, F., & McCaskill, M. (2015). The effect of disease risk probability and disease type on interest in clinic-based versus direct-to-consumer genetic testing services. Journal of Behavioral Medicine, 38(5), 706–714. https://doi.org/10.1007/s10865-015-9630-9
McBride, C. M., Alford, S. H., Reid, R. J., Larson, E. B., Baxevanis, A. D., & Brody, L. C. (2009). Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions. Genetics in Medicine, 11(8), 582–587. https://doi.org/10.1097/GIM.0b013e3181b22c3a
Trent, R. (2014). Direct-to-consumer DNA testing and the general practitioner. Australian Family Physician, 43, 436–439. ISSN: 0300-8495 https://europepmc.org/article/med/25006602
Therapeutic Goods Administration (2019) Department of Health and aged care. Australian Government. Retrieved from https://www.tga.gov.au/regulation-nutrigenetic-tests-australia
