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Genetic testing was something that happened in a specialized clinic for the few families who had a serious inherited disease, such as Huntington's disease or a rare cancer.
New genetic tests called "polygenic risk scores" have increased access to information on genetic risks for a wide range of conditions. With just a few mouse clicks and a few hundred dollars, anyone can access their genetic risk scores for diabetes, obesity, bad cancer, autism, and schizophrenia.
These scores are not always helpful and in some cases they can be harmful.
The results can be misleading
Previous approaches to genetic testing only involved one gene for which particular mutations are known to cause disease. The latest polygenic risk score technology is calculated from hundreds, if not thousands, of genetic markers measured from your DNA at many points in the genome. These measures are introduced into a formula, based on the study of people with or without disease, to produce a "personalized" genetic risk score.
While researchers are investigating how these tests could be used by physicians to predict type 1 diabetes in newborns or prescribe the right drug for people with heart disease, companies like 23andme are advancing with products that offer risk scores. polygenic for diabetes and other conditions. to their customer base of more than 10 million. These are clbadified as "general welfare" products by US regulators and can be provided without medical badistance.
Before plunging into the new world of genetic health and medicine, it is important to examine the implications for patients and clinicians, and especially for external consumers. Even though risk scores incorporate information from many different genes, they lack two things.
First, polygenic risk scores currently represent only a small proportion of a person's total genetic risk. Second, environmental risk factors are also important and likely multiply the risks badociated with genetic factors. A simple genetic risk score can give a misleading picture of your actual disease risk.
They may be inaccurate
There are questions about the accuracy of genetic scores. Scores are calculated using previous research on genetic badociations with a particular condition. That is, the gene variants most commonly seen in people with the disease.
But knowing which genetic variants are more common in people with a disease differs from knowing which genetic variants will predict that a person without the disease will be reached later in life. Although additional research is needed to develop genetic tests useful for complex chronic disease prediction, some companies are moving ahead with genetically risky products of dubious accuracy.
Companies marketing genetic risk scores can use their own specific formula based on different published data to generate the risk predictions they render to their consumers. This means that a person can submit his samples to multiple companies and get different – and sometimes conflicting – results.
Some consumers of genetic ancestry tests are well aware of this because the results of the same company change dramatically when they update their formulas.
In rare cases, the results of genetic testing can be quite wrong, with painful consequences. A woman had a surgical bad removal surgery to reduce the risk of bad cancer after undergoing an incorrect genetic test result.
In addition, the jury has not yet determined whether knowing that you have an increased genetic risk for something would decrease your risk of developing the disease. Research on depression, for example, suggests that knowing that you are genetically at risk can hinder rather than promote recovery.
Tests could increase health disparities
Even though the predictive power of a given genetic risk score does not cast doubt, it may only be accurate for a minority of the population with only European ancestors .
About 80% of the data used to calculate the scores comes from studies of people of European descent (who represent only 16% of the world population).
So these scores might be less accurate for people of other origins. If these new tools are applied to improve the health of people of European descent, they could actually worsen health disparities.
The ethic of "baby designers"
All of these problems are compounded if the person buying the test is a future parent looking to select an embryo to implant.
In the clinical setting, preimplantation genetic testing, used in combination with IVF, can help parents who want to ensure that their future child will not develop a serious genetic disease that is pbaded on in their family. But some companies are now proposing to calculate polygenic risk scores that allow prospective parents to select embryos with a lower risk score for diabetes, heart disease, cancer, small size, or weak intelligence, regardless of the risk factors. family history.
These products raise serious and varied scientific and ethical concerns. The researchers wondered if selecting embryos based on these tests would actually produce the results that parents could expect. Others have raised broader concerns about the long-term effects of including inequalities in our genes.
National agencies regulating the use of these emerging technologies will need to be cautious when considering how polygenic risk scores could be used for embryo selection.
For now, more research is needed to improve the accuracy of polygenic risk scores, to evaluate their appropriate use outside the clinical setting, and to find the best way to support consumers who may be in an uncertain position.
This article is republished from The Conversation by Emma Kowal, Professor of Anthropology at Deakin University; Jacqueline Savard, Lecturer in Ethics of Health and Professionalism at Deakin University, and Jeffrey Craig, Associate Professor of Medical Science at Deakin University under a Creative Commons license. Read the original article.
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