Direct-to-consumer genetic testing: To test or not to test, that is the question

Abstract

In direct-to-consumer (DTC) genetic testing, laboratory-based genetic services are offered directly to the public without an independent healthcare professional being involved. The committee of the Southern African Society for Human Genetics (SASHG) appeals to the public and clinicians to be cautious when considering and interpreting such testing. It is important to stress that currently, the clinical validity and utility of genetic tests for complex multifactorial disorders such as type 2 diabetes mellitus and cardiovascular diseases is questionable. The majority of such tests are not scientifically validated and are based on a few preliminary studies. Potential consumers should be aware of the implications of genetic testing that could lead to stigmatisation and discrimination by insurance companies or potential employers of themselves and their family members. Guidelines and recommendations for DTC genetic testing in South Africa (SA) are currently lacking. We provide recommendations that seek to protect consumers and healthcare providers in SA from possible exploitation.

Common Variants Associated with Type 2 Diabetes in a Black South African Population of Setswana Descent: African Populations Diverge

“…Projects such as the Southern African Human Genome Programme (SAHGP), which are working on documenting the genetic variation in Southern Africa, should be supported to enable the use of more representative population-specific SNPs, which could be used in future GWAS studies to identify common variants associated with T2D risk. The results of this study also support the stance taken by local genetic societies to discourage direct-to-consumer genetic tests for complex diseases such as T2D, as these tests rely on common variants reported in other ethnicities, which were noted not be associated with T2D risk among black South Africans of Setswana descent (Dandara et al, 2013).…”

Current landscape of direct‐to‐consumer genetic testing and its role in ophthalmology: a review

“…For example, a genetic counsellor or other qualified health‐care professional is necessary to explain the scientific and technical information as well as implications associated with psychosocial and family issues. From an ethical perspective, the flow‐on effects of genetic testing for other family members may be less obvious, but a positive test result has implications for relatives, some of whom may regard the results as containing ‘unsolicited’ information they have not given consent to receive . Removal of the doctor–patient relationship under the DTC model also allows for ‘surreptitious genetic testing’, circumventing even the basic assumption that the individual has provided consent to undergo the test.…”

Breast Cancer Genetics Knowledge and Testing Intentions among Nigerian Professional Women

“…Genetic testing for the BRCA genes has been commercially available in developed countries and allows for informed decision making for breast cancer patients and their female relatives, women at high risk of breast cancer, and the general population. The benefits of commercial genetic testing include the following: determination of chance of recurrence among breast cancer patients, selection of early cancer detection and risk reduction strategies, and reassurance for family members of breast cancer patients (Dandara et al 2013;Su 2013). There are, however, ethical concerns about cost, accuracy of test results, the handling of positive screening results, and discrimination of those with positive screening results by insurance companies (Caulfield et al 2010;Dandara et al 2013;Su 2013;Tong 2013).…”