Skip to main content
Premium Trial:

Request an Annual Quote

Color Sees Alternative Path for Population Screening in Employer Genetic Testing Benefits


This story has been updated to clarify that Color has board certified genetic counselors who are licensed in all US states that require it.

LA JOLLA, CALIFORNIA – Consumer genomics firm Color is working with employer groups to facilitate testing to benefit public health in light of recent data showing that the prevalence of genetic mutations associated with hereditary cancer and high cholesterol risk is far higher than previously estimated.

Traditionally, uptake of population screening modalities, such as mammograms and prostate-specific antigen testing, are driven by insurers' willingness to pay for them. "The problem is that it takes a very long time and is very inefficient," Alicia Zhou, head of research at Color, said at the Future of Genomic Medicine conference here last week.

One alternative in the meantime, Zhou said, is to work with self-insured employers willing to provide gene testing to their employees through benefits programs.

Color launched in 2015, offering to test 19 genes associated with hereditary breast and ovarian cancer for $250. Today, for the same price, the company tests for 30 genes associated with hereditary cancer risk, charges $99 to only analyze BRCA1 and BRCA2 genes, and more recently began testing three genes linked to familial hypercholesterolemia (FH).

Anyone can visit Color's website, pay for testing, and either authorize the company to have a physician from a third-party network approve the order or input a requisition number from their own physician. Doctors and genetic counselors are also ordering Color's tests through traditional healthcare channels, Zhou said, and academics are collaborating with the company to incorporate sequencing data into their research and return certain actionable test results to study participants. 

Another channel through which people can access Color's tests are employer-sponsored benefits programs. A few years ago, Color began partnering with employers who wanted to offer free or subsidized genetic testing to their employee base alongside other benefits such as a free gym membership, or vision and dental coverage. This, is "what I would truly consider our population genomics channel," Zhou said.

At the meeting, Zhou discussed Color's partnership with software company SAP as a case study. Color worked with SAP to spread the word about the availability of hereditary cancer genetic testing through its newsletter, via webinars, and on social media. Genetic counselors went to SAP headquarters in the Bay Area to answer employees' questions and to explain the risks and limitations of testing. At an on-site event, sample collection kits were available so interested employees could easily submit a tube of saliva for analysis.

In the first week of this program, 800 SAP employees signed up to get tested either on site or online. In the first three months of the program, more than 20 percent of SAP employees eligible for this benefit got tested.

Half the employees who got tested were male, which is surprising, Zhou said, because men tend not to think of prevention. "To be able to get half of the people [tested for hereditary cancer risk] be men is a huge milestone for us," she said.

The average age of those who got tested was 43, which suggests that many of these individuals likely don't have cancer yet and information about genetic mutations conferring risk could inform prevention strategies.

Moreover, 35 percent of those tested within the SAP benefits program were not Caucasian, which is encouraging given that minority populations have historically had limited access to genetic testing and have been underrepresented in research. "It's important for us to start testing individuals who are non-Caucasian," Zhou said, so prevention strategies can be improved for these groups.

Ultimately, out of 3,276 individuals tested within the SAP benefits program, genetic testing identified 18 individuals with deleterious mutations in BRCA1/2 and 11 people with mutations in Lynch syndrome genes. Color didn't offer its FH genetic test within the SAP program, but Zhou highlighted this effort as a more efficient path to population genetic screening.

The Centers for Disease Control and Prevention has recognized that because hereditary breast and ovarian cancer syndrome (BRCA1/2), Lynch syndrome, and FH "are poorly ascertained by the healthcare system, many individuals and families affected by them are not aware that they are at risk." What screening programs, like the one offered through SAP, are revealing, Zhou said, is that the prevalence of risk mutations associated with these conditions are higher in the population than previously thought.

She cited data from Geisinger Health's MyCode Community Health Initiative, a program that aims to sequence the exomes of 250,000 people in the community it serves, within which 500 individuals have received results on actionable genes. The prevalence of BRCA mutations detected within MyCode participants, suggests that 1 in 202 people in the population have mutations that place them at heightened risk for hereditary breast and ovarian cancer. Prior estimates based on testing only those with cancer or affected family members were that 1 out of 400 had a deleterious mutation in these genes.

Around the time projects like MyCode began reporting actionable genetic testing results to patients, research led by Mary-Claire King demonstrated that the prevalence of BRCA1/2 mutations is a lot higher than previously thought and screening modalities relying on family history were missing 50 percent of those with deleterious mutations and at increased cancer risk. 

BRCA mutations show up in 5 percent to 10 percent of breast cancers in the US, though their penetrance is less clear in ovarian cancer, with the frequency ranging from 3 percent to 27 percent. Women with mutations in BRCA1 and BRCA2 genes have a 72 percent and 69 percent lifetime risk of developing breast cancer, respectively; and a 44 percent and 17 percent risk of ovarian cancer, respectively. Comparatively, in the general population, 12 percent of women will develop breast cancer during their life and 1.3 percent will develop ovarian cancer.

Women who learn they have BRCA mutations before they get cancer can get mastectomies or oophorectomies to prevent or significantly lower their chances of getting breast and ovarian cancer. However, most don't find out they have these mutations until they have cancer. The US Preventive Services Task Force recommends testing and counseling for women with cancer or multiple affected family members with the disease. Most insurers' coverage policies follow this guideline.

Based on her research demonstrating the limitations of this kind of screening approach, three years ago King began advocating for screening women for deleterious BRCA1/2 mutations starting age 30. Color, for which King is an unpaid advisor, and a number of other consumer-facing genetic testing companies subsequently launched citing King's appeal as inspiration.

However, scaling up genetic testing for the general population will also necessitate expanding access to genetic counseling and testing for relatives who may have inherited the same mutation, Zhou noted.

Within the SAP program, all those with a positive result spoke to a genetic counselor and shared that information with their doctor to develop a risk mitigation plan, but if this type of testing is to be done at the population level, then "there needs to be a shift ... in the way we think about genetic counseling so we can serve all the individuals that might need it," Zhou said.

As of May 2017, the National Society of Genetic Counselors estimated that there are more than 4,200 genetic counselors in North America. Although the demand for counselors is growing, the NSGC believes that the rate at which new training programs are popping up, there may be enough genetic counselors to meet the increasing demand over the next decade.

Color employs board-certified genetic counselors (licensed in all US states that require it) who talk to customers over the phone. Counseling is required for anyone with a positive result, and optional for those with a negative result. According to Zhou, there is nearly 100 percent uptake of genetic counseling among Color customers with a positive result. A far smaller proportion of customers with negative results get genetic counseling, mostly when they have a family history of the condition.

Because genetic counseling sessions require lengthy discussions about a family's history of illness, Color has developed software to streamline the process, such as a pedigree generation tool and risk profile models that are automatically run on individuals' family histories. With the help of these tools, the average counseling session takes 30 to 40 minutes depending on whether patients have positive results, variants of unknown significance, or negative results.

Color customers schedule their own genetic counseling appointments. As a result, Zhou noted that only 3 percent of Color customers miss appointments, where as in the broader testing community, 12 percent miss genetic counseling appointments

Color also offers a family testing program, where first-degree relatives of people with deleterious mutations ― even if the mutation was detected by another lab ― can get tested on its hereditary cancer or high cholesterol gene panel for $50. "Once you've identified a person with high risk that has that mutation, all of their first degree family members are now at a 50 percent risk of carrying that same mutation," Zhou said. "There is no higher risk population than those first degree relatives. So how do you get all of them to get this test?"

Currently, a lot of cascade testing doesn't happen because families are spread out geographically making follow up inconvenient. However, because Color's services are easily accessed online and over the phone, its family testing program has seen strong uptake, Zhou said, particularly among female family members.

With any population screening approach, there are always concerns about the cost of such an endeavor and about the risk of false positives. A 2015 cost-effectiveness analysis published in JAMA Oncology found that a universal screening program from BRCA1/2 genes would not be cost effective ― assuming that clinical diagnostics (that are more widely adopted than Color’s test) cost several thousand dollars and based on the earlier estimate that 1 out of 400 women would carry a mutation.

Patricia Ganz and Elisa Long calculated that a universal screening program would avert four cases of breast cancer and two cases of ovarian cancer for every 10,000 women screened compared to a family history-based screening approach. Though genetic screening would extend life expectancy by 3.5 years compared to family history-based screening for mutation-positive individuals, for the majority of women without a genetic mutation, there would be no increase in life expectancy, they would still need regular mammograms, and it "may provide false reassurance," they wrote.

Ganz and Long's analysis, however, found that BRCA1/2 screening was much more impactful for Jewish women (with an average 16-fold higher life expectancy gain), since mutations are more prevalent in this community. And, importantly, the authors wrote that universal screening of BRCA1/2 could become cost effective if more companies like Color price tests at around $250.

A cost-benefit analysis of genetic screening could look more promising now that there is data suggesting that deleterious BRCA mutations for hereditary breast and ovarian cancer, Lynch syndrome, and FH occur much more frequently in the population than previously thought. Recent estimates suggest that around 1 in 78 individuals have mutations conferring risk for these conditions, whereas previously it was thought that 1 in 148 individuals had them.

Color has conducted its own analysis of the costs and benefits of screening for mutations in these genes in the general population, which is slated for publication next month, Zhou said.