Quest Diagnostics, a US-based diagnostic information service provider, has launched its first consumer-focused genetic test, Genetic Insights. The new service will help people to understand their risk of developing inheritable medical conditions. The service will include personalised health reports and access to genetic counselling, a service not commonly offered with similar services.
The test examines 36 genes using a saliva sample and is able to analyse the potential risk of up to 24 genetically inheritable conditions, including breast and colon cancer, heart and blood disorders and carrier status for cystic fibrosis, sickle cell anaemia, and Tay-Sachs disease.
The company claims the product will address the gaps in existing consumer genetic tests by using next-generation sequencing technology which can analyse thousands of DNA variants in genes associated with disease and looks at more regions in the genome than microarray testing.
Dr Sarah South, PhD, FACMG, Executive Scientific Director of R&D for Molecular Genetics and Oncology, Quest Diagnostics said: “The use of NGS is a crucial distinction because NGS-based tests are uniquely able to identify a wider range of genetic conditions and keep pace with new genetic discoveries.”
However, there are still limitations to the technology, such as tests not being available for all conditions that consumers are interested in. In addition, tests are not always definitive about whether individuals will or will not get a particular disease.
While providing personalised information about a person’s health, these tests may also reveal unexpected information about genetic risk, family relationships, or ancestry that can be stressful or upsetting.
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In May 2023, Quest Diagnostics released an artificial intelligence-based test service, collaborating with uMETHOD. That test provides a risk assessment and care plan service across the US, called RestoreU Dementia Panel.