Viewpoint: Consumer genetic testing plagued by inaccuracies that can be misleading, or even harmful

Viewpoint: Consumer genetic testing plagued by inaccuracies that can be misleading, or even harmful

Publication date: Sep 06, 2019

Now, new genetic tests called -polygenic risk scores” have increased access to genetic risk information for a wide range of conditions.

The newer technology of polygenic risk scores are calculated from hundreds, if not thousands, of genetic markers measured from your DNA at many points on the genome.

These measurements are fed into a formula, based on studying people who do or do not have a condition, to produce a -personalised” genetic risk score.

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.

First, polygenic risk scores currently account for only a small proportion of a person’s total genetic risk.

A genetic risk score alone can give a misleading picture of your actual disease risk.

While more research is needed to develop genetic tests that are useful for predicting complex chronic diseases, some companies are forging ahead with genetic risk products of doubtful accuracy.

Companies marketing genetic risk scores might use their own specific formula drawing on different published data to generate the risk predictions they return to their consumers.

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.

Concepts Keywords
Autism In vitro fertilisation
Biomarkers Medical genetics
Breast Genetic disorder
Breast Cancer Polygenic score
Cancer Genetic testing
Cardiovascular Medicine
Chronic Diseases Branches of biology
Cultural Anthropologist Mutations disease
Deakin Cardiovascular neurodevelopmental disorders
Depression Complex chronic diseases
Diabetes Aheadwith products
Embryo Wellness products
Embryo Selection Genetic risk products
Epigenetic Predictive medicine
Genetic Condition
Genetic Medicine
Genetic Test
Genetic Testing
Heart Disease
Neurodevelopmental Disorders
Short Stature
Waurn Ponds


Type Source Name
disease MESH obesity
disease DOID obesity
disease MESH breast cancer
disease DOID breast cancer
pathway BSID Breast cancer
disease MESH autism
disease DOID autism
disease MESH schizophrenia
disease DOID schizophrenia
disease MESH genetic markers
disease MESH type 1 diabetes
disease MESH heart disease
disease DOID heart disease
disease MESH risk factors
disease MESH chronic diseases
disease MESH depression
disease MESH genetic disease
disease DOID genetic disease
disease DOID cancer
disease MESH community
disease MESH development
disease MESH neurodevelopmental disorders
disease MESH cancers


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