Silicon Valley DNA testing startup Helix has joined forced with clinical diagnostics company PerkinElmer on GenePrism, a consumer gene testing product that is meant to highlight predispositions for a range of different conditions.
While more than 6,000 genetic mutations exist that are associated with disease, only a small fraction are actionable or have a treatment option. These include mutations that can increase the risk of diseases like breast cancer, colorectal cancer and heart disease.
GenePrism analyzes the 59 genes considered medically actionable by the American College of Medical Genetics.
“Typically, clinical genetic testing that detects ACMG 59 genes is restricted to people with a current illness or specific indicators in their family histories,” Helix co-founder and senior vice president Justin Kao said in a statement.
“On a population basis, three to four percent of people have a genetic variant that can significantly impact their health, but until now, virtually no one was able to access this critical information even if they request it from their doctor directly.”
GenePrism is meant for healthy individuals without known risk factors, significant family history of disease or previously diagnosed genetic predispositions.
Within the collaboration, Helix is responsible for sequencing the user’s DNA and passing results to PerkinElmer, which will provide data analysis and interpretative services using the company’s team of medical geneticists.
The companies are contrasting GenePrism’s approach with that of 23andMe by highlighting that the test analyzes specified genes in their entirety, rather than only a portion of the genetic material, which could lead to inaccurate concern or reassurance.
Also, as opposed to 23andMe’s genetic risk tests, GenePrism is only available with clinician approval. A partnership with Genome Medical gives Helix users digital access to genetic experts who can appraise their medical history and determine whether the test is right for them.
Free genetic counseling is also available with the test’s purchase to help guide consumers on how to understand results and tie them to better health behaviors. GenePrism is currently available on the Helix online store and starts at $259 for existing Helix customers and $300 for new users.
“With the growing interest in DNA testing, the healthcare community is feeling pressure from an influx of patients looking for health-related insights and answers about their genetic makeup,” PerkinElmer Genomics Chief Scientific Officer Madhuri Hegde said in a statement.
“People will gain insights into potential genetic risks for disease through an interactive results portal and guidance from genetics experts via telemedicine. This allows them to be proactive with their health, and healthcare providers to spend additional time with patients whose results require further action or testing.”
Helix’s model involves collecting one DNA sample from users, who are then able to purchase various applications and products through the company’s online store. Looking forward, the companies said said they are planning to build on their existing collaboration by expanding services to additional genes and adding whole exome analysis products.
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