In recent years, consumer genetics companies like 23andMe have made fortunes offering services that purport to help people understand their DNA and genetic profiles. But most of these companies--23andMe, for example--offer very limited information. Most of the genetic data is compiled from only a few key letters of the human genome.
The resulting profile is merely a snapshot, known as an SNP, of the total genetic profile. It’s the equivalent of reading only a few random words from a book and trying to ascertain the meaning.
What is GenePrism?
A new test, called GenePrism, seeks to offer consumers a whole chapter of their genome. The test, considered a first of its kind, is the result of a collaboration between startup Helix and clinical diagnostics company PerkinElmer.
GenePrism analyzes 59 genetic variants carrying the risk of breast cancer, colon cancer, high cholesterol, and other diseases, focusing on genetic factors that impact medical conditions which are serious but “medically actionable.”
The test prioritizes analysis of genetic variations for which the resulting diseases are known for “high penetrance and their actionability.” High penetrance means that you have an increased risk of developing a disease or medical condition because of a specific genetic variant.
Actionability means there are medical procedures and lifestyle changes that can decrease your chances of developing a disease, or increase your ability to manage the illness once you have it.
Additionally, the test provides customers with genetic counseling, called GenePrism: Actionable Insights, so that people can fully understand what their results mean and how they can take medical action against any disease risk.
What's the Difference Between GenePrism and 23andMe?
This is yet another crucial difference between GenePrism and 23andMe. What’s the use in getting genetic information if you don’t know what it means? Helix partnered with the digital health and genetics startup Genome Medical to offer unprecedented access to genetic experts who can provide counseling.
Helix's cofounder and senior vice president, Justin Kao described the counseling in a Business Insider interview: "These are conditions where if you get a positive result, your physician will be able to walk you through how to intervene."
For example, test results showing an individual has a higher risk of colon cancer can be coupled with actionable procedures, such as getting regular colonoscopies or bowel exams. The goal is to provide customers with a tool to improve their health without besieging them with so much information that they don’t know what to do.
Another example is the BRCA2 gene, for which GenePrism regularly tests.
This gene can, under certain variations, considerably increase a person’s risk of breast and ovarian cancers. An individual who had foresight on carrying this genetic variant would be able to get rigorous and comprehensive early screening procedures and stand a fair chance of catching the disease before it became an advanced stage cancer.
This is an example of how an actionable insight produced by high-level genetic analysis could actually save lives. Learning whether one is at risk of developing a potentially fatal condition is frightening, but it’s a lot less frightening than learning you waited too long and can do nothing to combat it.
The Role of a Genetic Counselor
A genetic counselor also helps prioritize the crucial aspect of “interpretation” that is involved in understanding one’s genetic risks. Madhuri Hegde, the vice president and chief scientific officer of PerkinElmer's genomics division, says interpretation is important because a negative result, for example, does not necessarily rule out all risk associated with a genetic variant.
A set of complex, interacting factors are involved, including family history, exercise, and diet, which can each affect disease risk in unexpected ways.
The “full chapters” of genetic analysis offered by GenePrism, as opposed to the random letters of a test like 23andMe, also ensures that interpretations are as evidence-based as possible.
In an interview, Kao broke down a specific example of how the GenePrism test surpasses others on the market: “Typically, clinical genetic testing that detects ACMG 59 genes is restricted to people with a current illness or specific indicators in their family histories. On a population basis, 3% to 4% 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.” Kao added, “Now, healthy individuals who were previously ineligible for clinical genetic testing can confidently know if they’ve inherited a disease-associated variant and take proactive health measures.”
PerkinElmer’s database of genetic variations, one of the largest in the world, is run through their own “proprietary high-throughput software platform,” known as ODIN (Ordered Data Interpretation Network), which fuels GenePrism: Actionable Insights.
“GenePrism: Actionable Insights is inherently different from other tests on the market because it leverages PerkinElmer’s longstanding diagnostics expertise and state-of-the-art clinical genomics program,” said VP Hegde in a statement.
Hegde further explained how the technical side of GenePrism’s genetic counseling works: “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.”
How Much Does the GenePrism Test Cost?
The GenePrism test, which costs $299 (or $259 if you’re already a Helix customer), is easy to acquire. Like another Silicon Valley startup, Color Genomics, the test requires a physician’s authorization but can be purchased independently of a healthcare provider from Helix after completing a questionnaire and submitting a DNA sample.
Customers can also download their full sequencing results for $499. Because genetic data is involved and Helix emphasizes the importance of consumer privacy, full sequence downloads are done with a two-step verification process.
In an age of rampant hacking, identity theft, and corporate data mining, most experts believe this extra protective measure should be required for all commercial genetic tests, though many evade it. This attention to privacy is yet another way in which Helix may lead the way in the field of consumer genetics and DNA analysis.
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