There is an emerging consensus that when research investigators obtain genomic data from study participants, there is an ethical responsibility to inform at-risk individuals about preventable genetic disorders discovered during the course of the study. However, there are several significant barriers to implementing this in the typical research setting, such as: 1) most research labs are not CLIA-certified, so the results cannot be directly used in clinical management, 2) investigators do not have access to genetic counselors for their study, and 3) most research labs do not have ABMGG-accredited geneticists to interpret the results. These impediments and others are reviewed in Darnell AJ, et al.
Today, we’re launching Color for Research which addresses many of these barriers. In addition, our service democratizes access to genetic research with its affordable price and end-to-end service. In this spirit, we’ve also established the Color Foundation, a 501(c)(3) non-profit, to offer the Color Research Grant to help encourage and support students and scientists in advancing genetics research. The first Color Research Grant was awarded to Gerneiva Parkinson, an investigator from the Yale School of Medicine, who is using Color to study the prevalence of hereditary cancer in her home country of Trinidad & Tobago. Gerneiva’s inspirational story is captured in this video.
The end-to-end service of Color for Research has a base price of $249 per sample or participant. Here’s a summary of benefits:
Here are additional benefits:
- Researchers receive analytical support and data summaries to help with analysis and publication of their findings.
- Results returned to participants are determined by the investigator and their IRB.
- High-quality and consumer-friendly results reports are available to participants and their healthcare providers online.
- Color’s board-certified genetic counselors are available to aid with the results and can help to inform participants about appropriate clinics.
- Cascade testing of at-risk first-degree relatives is $50 through Color’s Family Testing Program.
- Researcher dashboard to track progress and access data.
- Retrospective studies on bio-banked samples are also possible, but would not include return of results.
- Note: All clinical tests must be ordered by an authorized healthcare provider.
Color for Research can also be used as a mechanism for converting exome or genome research data into analytically valid secondary clinical findings and providing genetic counseling for those findings, similar to the secondary-genomic-findings service (SGFS) proposed by Darnell AJ, et al. The Color for Research service can take research-grade genomic data collected as part of a study, screen it for pathogenic variants from a specified gene list, resample participants with such variants, validate the variants in a clinically-valid manner, and return the results to the participants (based on IRB approval and participant consent).
At Color, our goal is to make actionable health information available to everyone. Our broader vision is to help shift our collective healthcare approach from one of treatment to prevention. By supporting the scientists studying our genetics, we hope to help make that happen sooner. Color for Research allows investigators to return results to research participants in an compliant, informative, and responsible way.
I’m at ACMG in Phoenix this week. Please stop by our booth (#321) or send me a Direct Message on Twitter @jhagenk if you’d like to hear more about our mission and vision at Color. If you’d like to learn more about how to apply for the Color Research Grant, visit www.color.com/research.