Genetic risk tests are widely available, they could be harmful and aren't always useful

Genetic testing used to be something that happened in a specialist clinic for those few families that had serious inherited conditions, like Huntington’s Disease or rare cancers.Now, new genetic tests called “polygenic risk scores” have increased access to genetic risk information for a wide range of conditions. With a few clicks of a mouse and a few hundred dollars, anyone can access their or their genetic risk scores for diabetes, obesity, breast cancer, autism, and schizophrenia.These scores aren’t always useful, and, in some cases, they could be harmful.

Results can be misleading

Polygenic risk scores currently account for only a small proportion of your total genetic risk. Image credit: Pixabay[/caption]While researchers are looking at how these tests might be used by doctors to predict type 1 diabetes in newborns, or prescribe the right medications for people with heart disease, companies like 23andme are forging ahead with products that offer polygenic risk scores for diabetes and other conditions to their customer base of over 10 million. As these are classified as “general wellness” products by US regulators, they can be provided without medical support.Before we jump wholeheartedly into the new world of genetic health and medicine, it’s important to consider the implications for patients and clinicians, and especially for consumers outside the clinic. Even if risk scores incorporate information from many different genes, there are two things they currently miss.First, polygenic risk scores currently account for only a small proportion of a person’s total genetic risk. Second, environmental risk factors are also important, and likely multiply the risks associated with genetic factors. A genetic risk score alone can give a misleading picture of your actual disease risk.

They can be inaccurate

Testing could increase health disparities

Representational image. credit: Pexels[/caption]

The ethics of ‘designer babies’

All these issues are compounded if the person buying the test is a prospective parent seeking to select an embryo for implantation.Within the clinical setting, pre-implantation genetic testing – used in tandem with IVF – can help parents who want to ensure their future child does not develop a serious genetic disease that runs in their family. But some companies are now offering to calculate polygenic risk scores that allow prospective parents to select embryos that have a lower risk score for diabetes, heart disease, cancer, short stature or low intelligence irrespective of the family history.These products raise serious and wide-ranging scientific and ethical concerns. Researchers have questioned whether selecting embryos on the basis of these tests will actually produce the outcomes parents might expect. Others have raised broader concerns about the long term effects of embedding inequities in our genes.National agencies that regulate the use of these emerging technologies will need to tread carefully when considering how polygenic risk scores could be used in embryo selection.For now, more research is required to improve the accuracy of polygenic risk scores, to assess their appropriate use outside of the clinical setting, and to work out how to best support consumers who may find themselves in an uncertain position. Emma Kowal, Professor of Anthropology, Deakin University; Jacqueline Savard, Lecturer in Health Ethics and Professionalism, Deakin University, and Jeffrey Craig, Associate Professor in Medical Sciences, Deakin UniversityThis article is republished from The Conversation under a Creative Commons license. Read the original article.

More from Science