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A $249 Test Could Save Your Life

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A new start up, Color Genomics, comprised of ex-Google employees Othman Laraki and Elad Gill along with pathologist, Taylor Sittler, and biologist, Nish Bhat, was formed with the goal of making the genetic testing for genes associated with increasing the chances contracting breast or ovarian cancer more affordable. According to Forbes, the company has raised over $15 million which has allowed the company to lower the cost for the testing from $4,000 to just $249, and test an additional 19 genes connected to breast and ovarian cancer, including BRCA1 and BRCA2.

An unrelated $34 smartphone device can check for HIV and syphilis in just 15 minutes.

Mutations in the BRCA1 and BRCA2 genes also put women at risk for cancer at a much younger age. Early detection greatly increases five-year survival rates, from 25% for late-stage breast cancer to 98% for early-stage breast cancer. If a woman knows her risk, she can pursue a range of options—including close monitoring or invasive prevention.

[quote text_size=”small” author=”– Othman Laraki”]

We went through the process end to end, from receiving the sample at the lab to analysis, and automated every single step that before involved a lot of manual labor by clinicians. To give a concrete example, when you see a genetic variant in someone, you need to determine if it’s a damaging one or not. To do that, there are well-established guidelines that you can think of as a complicated flow chart that incorporate many pieces of information that tend to be implemented in a very manual way. So you have very highly educated PhDs assembling that information to make that determination of whether something is pathogenic or not. What we’ve done is created a process that makes those same PhDs able to do that work in a much more efficient way.

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The Color Genomics Color Test must be ordered by a physician. The physician can be a woman’s doctor, or a physician designated by Color Genomics to review a woman’s personal and family health history and order the test for her. After Color Genomics receives and analyzes the results, The woman is then connected with a genetic counselor who is available to explain and talk about the results with her— this consultation is included in the testing cost.

[quote text_size=”small” author=”– Othman Laraki”]

People own their data, it belongs to the consumers, and they should be able to decide how their data is used (…) But there’s also a moral imperative to share findings with the research community, in open databases with aggregate data in anonymized form. If we discover that a gene variant is pathogenic, we think that it’s very important that another lab can benefit from our work.

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In other cancer related news, the number of breast cancer cases are set to rise 50% by 2030.

What are your thoughts on this new $249 test which could save your life?

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