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Color Genomics Aims to Democratize Genetic Research With New Sequencing Service


NEW YORK (GenomeWeb) – Color Genomics today launched a sequencing service that will enable researchers to incorporate genetic data into their studies and participants to learn if they harbor genetic variants that increase their risks for certain cancers.

The Color for Research service will take care of sample collection, DNA extraction, and analysis in a CLIA-certified lab, as well as variant interpretation and results reporting. Color will provide analytical support and data summaries to researchers, ship the spit kit to participants' homes, and take care of the consent process.

For its commercial service, Color charges around $250 to test for 30 genes associated with hereditary cancers. Individuals can directly order testing through Color's website, and Color reports the results, especially if testing identifies a risk variant, through a board-certified genetic counselor and assists the individual in identifying further care if necessary.

In the research service, when participants are enrolled in prospective studies, Color will also provide them with genetic counseling. Participants will get back results related to hereditary cancer risk that Color tests as part of its commercial service, while researchers will receive sequencing data files in the gene regions they are interested in. As Color releases more preventive genetic products commercially, the primary investigator of a study can determine what additional clinical reports Color can report to participants.

Jill Hagenkord, Color's chief medical officer, said Color launched the research service because of growing demand. "As more and more people learned about Color and more physician researchers were using Color in their clinic, they realized it was an affordable and convenient way to conduct research, as well," she said in an interview.

By charging $250, Color aims to democratize access to genetic testing that is traditionally thousands of dollars and often not covered by insurance, unless people can provide documented evidence of a strong family history of cancer. Studies have shown that in a large percentage of cases, people with deleterious mutations in certain cancer risk genes don't have a family history of the disease for various reasons. 

The price tag also democratizes genetic research, in Hagenkord's view. "Because of our price point and that we have the laboratory, it makes genetic research accessible," she said. Color estimates that the cost of conducting genetic testing in a CLIA-certified core lab facility can exceed $1,000 per participant after factoring in all the necessary steps.

Due to these costs genetic testing in research is often not done in a CLIA-certified lab, and as a result investigators also can't report results to participants. With the Color for Research service, the Burlingame, California-based firm wanted to address this "return of results conundrum," Hagenkord said.

In recent years, as genomics has become increasingly important in areas like cancer care, and with the launch of national government projects, such as the Precision Medicine Initiative, experts have been mulling what they can and should report back to research participants. As researchers implement whole-genome and exome sequencing in studies and doctors order such analyses for their patients, it can reveal clinically relevant findings in genes they weren't considering.

In the American Journal of Human Genetics last year, Duke University's Andrew Darnell and others estimated that currently between 1 percent and 3 percent of individuals participating in such testing will get a secondary finding that they are at high risk for a disease that they can do something about. The scope of such findings will increase in the future, wrote Darnell et al., and while "there is considerable agreement that high-impact findings should be returned to participants … many researchers performing genomic research studies do not have the background, skills, or resources to identify, verify, interpret, and return such variants." 

The NIH recently hosted a two-day workshop to discuss some of these same challenges as it contemplates what genetic information the Precision Medicine Initiative might return to the 1 million participants it hopes to enroll. Although experts presented a range of ideas and caveats about what data should be returned during the meeting, at a basic level people agreed that participants expected to learn something in return for donating their time and data. 

At the workshop, Kelli Auerbach from Wondros, a media and consulting firm conducting research on PMI participation, noted that "the root of these desires was that [they felt] this was a big deal. I am giving a lot to you. And so, if I'm going to give you that … don't abandon me."

These ideas on returning genetic test results have been evolving in the research community for some time, and consumer-minded genetic testing firms have tried to fill the need. Last year, 23andMe launched Genotyping for Research, through which the firm similarly wants to streamline scientists' ability to integrate genetic data into studies and enable return of results to participants. 

Investigators like Ahmad Hariri at Duke have attested that using 23andMe's service to collect genetic information for a neurogenetics study was a lot cheaper than setting up a core lab. And a bonus benefit, he said, was that giving 23andMe results back to participants was "an incredible incentive" for joining the study.

What Color is launching uses the same rationale, Hagenkord said, "but it's sequencing and not genotyping" in recognition of the fact that a lot of researchers are now applying sequencing data in their research. 

Color has also established a non-profit, called Color Foundation, that will award research grants to students and scientists conducting genetic research. The foundation is accepting applications until July 1, and will award up to two grants during the cycle.

Previously, Color awarded a grant to Gerneiva Parkinson, a young investigator from Yale University researching the high prevalence of breast cancer in her home country of Trinidad and Tobago. Although she had been able to raise some money on her own to genetically test people to study their risks for breast cancer, Color's grant is helping her cast a wider net so there is a better understanding of the disease in that population.

The grants Color will provide to investigators through its foundation will seed studies that Hagenkord hopes will help them get bigger grants in the future.