The NIH is Investigating the Links Between Genes, Health, and Disease

Genomic testing is becoming increasingly common, but more work still needs to be done into understanding which gene variants are linked to health and disease. To address this, the National Institutes of Health is supporting programs that explore this link. For more information, you can read the source article at the NIH’s website by clicking here.

The ClinGen Program

The ClinGen program was set up in 2013 to develop a standard process for reviewing information about gene variants and how they are linked to health. The program connects experts from clinical and research backgrounds, who then work together to understand the implications of each variant for disease diagnosis and treatment. Information about each gene variant is stored (and made publically available) on the website ClinVar, which you can find out more about here.

So far, over seven hundred researchers, clinicians, and curators from more than two hundred institutions have worked on ClinGen’s project to create a standard review process. As part of this work, researchers produced a framework that can be used to evaluate how gene variants affect a certain disease, which several expert panels are planning to implement. The director of the National Human Genome Research Institute, Dr Green, said that ClinGen’s work “will lead to […] higher-quality patient care.”

Research into Epilepsy and RASopathies

According to the NIH’s article, two expert panels looked into genes linked to epilepsy and RASopathies (a group of rare genetic conditions). They found that, of the sixteen genes thought to be linked to epilepsy, eight were judged to have insufficient evidence to support their role in the disease. The same was found of six out of twenty genes linked to RASopathies. The NIH says that this review is useful because it will help to inform labs about which genes to test for when diagnosing these conditions.

A Patient Registry

In addition to their other work, ClinGen has created a patient registry called GenomeConnect. This allows patients who have had genomic testing to share their genomic variants and clinical data with ClinVar. Patients can use the registry to connect with clinicians, researchers, and other participants. It also allows them to be kept up to date with any new information shared by the lab that tested them about their gene variants. So far, more than 1,600 people from 32 countries are participating in the registry.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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