Sema4 Partners and Helix Offering CarrierCheck, a Genetic Test for 67 Hereditary Diseases

Patrícia Silva, PhD avatar

by Patrícia Silva, PhD |

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Genetics saliva test

Sema4 and Helix have partnered to offer CarrierCheck, a simple, saliva-based test that screens for 67 hereditary conditions, including cystic fibrosis (CF).

The test provides people with a snapshot of their DNA and how it might impact their future choices, lifestyle and children’s health, among others. The partners created it to increase peoples’ awareness of their genetic history.

Sema4 is a health information company committed to providing open access to data and creating practical tools to help patients, doctors, and researchers better predict health trajectories. Helix is a personal genomics company whose mission is to help people improve their lives through DNA.

“Sema4 and Helix are perfectly aligned in their missions to help consumers gain greater access and understanding of their personal genomic data,” Dr. Eric Schadt, chief executive officer of Sema4, said in a press release. “We are excited to launch CarrierCheck, our first product on the Helix platform, to empower consumers with the understanding of their own DNA and gain insights useful to their future family planning.”

CarrierCheck is available online for $199 plus a one-time $80 fee for a Helix DNA kit.

To order a DNA kit, new customers must first create an account with Sema4, then answer a brief health history questionnaire. A physician from Sema4 will review the health history to ensure CarrierCheck is an appropriate option and, once approved, the company will mail a saliva collection kit to the customer.

Helix will use the saliva to sequence a customer’s DNA, and store the unused part of the sample for further testing. After that, customers can access CarrierCheck and other services that Helix offers, like fitness guidance, nutritional guidance, and family planning advice rooted in DNA.

When a person orders CarrierCheck, the genetic information is returned to Sema4 for analysis, and the results are then communicated to the customer. To help a person understand the report, Sema4 makes genetic counseling services available.

One can track the CarrierCheck order through the entire process through an online Sema4 account.

“We have been working with the Sema4 team since before their spinout from Mount Sinai, and we are proud to be working with a partner that is committed to pairing clinical-grade interpretation with our high-quality sequencing,” said Justin Kao, Helix’s co-founder and senior vice president.

“Carrier screening is one of the most well-known and sought-after types of DNA tests, and we are proud to feature CarrierCheck in our marketplace to provide people with an accessible carrier screen that also offers genetic counseling support,” Kao said.