color-genomics-review

Color Genomics review – DNA testing for both consumers and patients?

Rating based on our Color Genomics Review

7 facts from our Color Genomics Review

  1. Color Genomics location: Burlingame, CA (San Francisco, CA)
  2. Products: genetic tests for mutations associated with cancer risk, genetic forms of heart disease, and medication responses
  3. Ordering: online or at a doctor’s office
  4. Reports: help to make medical decisions in consultation with a medical provider
  5. Data availability: data download not available for most tests
  6. Cost: $0-$249; tests covered by insurance if ordered by a personal physician 
  7. Alternatives: Nebula Genomics (whole genome sequencing for $299), Invitae, Myriad Genetics, Ambry Genetics, and GeneSight

Introduction

This is a review of Color Genomics, a California-based clinical genetic testing company. It was co-founded by Elad Gil, Nish Bhat, and Othman Laraki, CEO in 2015. It offers genetic tests for cancer, heart disease, and medication responses.

Patients can order a Color Genomics test with the help of their personal physician. Otherwise, they can request a test from an independent physician when they order online. The physician reviews the patient’s information, determines if they are eligible, and orders a Color DNA test on the patient’s behalf. The physician who ordered the test will automatically receive a copy of the results. 

The results will inform the patient if they have a gene mutation that increases the risk of developing a disease. Results from Color DNA tests do not diagnose diseases, but just report predispositions. Testing positive for a genetic mutation does not mean that the individual will develop a disease in their lifetime.

Color Genomics claims to have decreased the cost of genetic sequencing by using robotics and machine learning to perform routine tasks which made genetic testing available to many more people. 

Color Genomics Products

Color Genomics offers three DNA sequencing products that differ in how many genes they analyze. All Color tests include ongoing access to genetic counselors and clinical pharmacists, who are employed by Color Genomics. 

Standard (only available through employers and healthcare providers, rates may vary)

The Color Standard test is available through employers and healthcare providers. It includes the 10 most actionable genes for hereditary cancer and heart conditions. The CDC recognizes these genes as important for public health. The test also analyzes 14 genes related to medication reaction. Examples include gene CYP1A2, which metabolizes drugs that include caffeine and acetaminophen, and CYP2D6, which metabolizes drugs that include antidepressants like SSRIs and beta-blockers that are prescribed for high blood pressure. This test is only available through employers and healthcare providers.

Extended ($249)

The Color Extended test is designed for patients who want a more comprehensive report of how their genes link to disease. It is especially beneficial for those who have a personal or family history of cancer or heart disease. The test analyzes 74 genes

Hereditary Cancer ($249)

The Color Hereditary Cancer test is designed for patients who want to understand hereditary cancer risk only. The test includes 30 genes linked to breast and ovarian cancer as well as uterine, colorectal, melanoma, pancreatic, stomach, and prostate cancers. 

Color Genomics Programs

Family Testing Program

This program allows close relatives of patients to access genetic testing at a reduced price. Parents, siblings, and adult children of patients who test positive for a genetic mutation can order a Color DNA testing kit for $50. Color Genomics accepts positive test results from its own tests as well as any clinical-grade lab.  

Employer Program

This program currently offers genetic testing as a benefit to employees at over 100 organizations. Partners include Visa, GE Appliances, and Levi Strauss & Co. 

Color Genomics provides employee education and engagement, access to genetic testing and counseling, and a high return on benefit investment through employee personalized care. 

Employees who volunteer to participate can purchase a Color Genomics kit at a 50-100% discount. Employees receive all the benefits of purchasing a kit, including ongoing free genetic counseling. As part of the program, Color Genomics analyzes genes associated with hereditary cancer and heart disease. 

Employers receive anonymized aggregated results. These results are meant to identify risk areas in their employee population and help the employer choose the most impactful benefits. Color Genomics does note that the availability of this data to the employer depends on the number of participating employees and compliance with data privacy regulations and guidelines.

A case study from the Teamsters Health and Welfare Fund of Philadelphia describing their experience with the Color Genomics Employer Program can be found on the Color Genomics website.

Taking a Color Genomics Test

Color Genomics customers can purchase a DNA testing kit online, but it must be ordered by a physician. Personal physicians can order online through Color Genomics’s HIPAA-compliant online portal. Otherwise, an independent physician from an external network will review patient information and order the DNA test.

Color Genomics customers can decide which physician should sign off their tests.
Color Genomics customers can decide which physician should sign off their tests. 

The customer collects a saliva sample and mails it back to Color Genomics with a prepaid return label. The tests are diagnostic and are performed in a CAP-accredited and CLIA-certified laboratory. A certified medical professional quality checks each sample before returning the results. Patients and medical providers receive the report after 3 – 4 weeks. 

The Color Genomics report is provided to the patient and the physician who ordered the test. They can access the report online and download it as a PDF. 

Review of a Color Genomics Report

Report Overview

Color Genomics provides a DNA health report that analyzes up to 74 genes that fall into 3 categories:

  • 30 genes that impact risk for breast (including BRCA1 and BRCA2), ovarian, uterine, colon, melanoma, pancreatic, stomach, and prostate cancers.
  • 30 genes associated with genetic forms of heart disease (including high cholesterol).
  • 14 genes that can influence how the body processes medications. Examples include the CYP1A2 gene, which metabolizes drugs that include caffeine and acetaminophen, and CYP2D6, which metabolizes drugs that include antidepressants like SSRIs and beta-blockers for high blood pressure.
Color Genomics tests for genes linked to cancer, heart disease, and medication responses.
Color Genomics tests for genes linked to cancer, heart disease, and medication responses.

Types of DNA tests offered by Color Genomics.

Color Genomics Sample Report 

Now, let’s review a Color Genomics report. It includes sections on genetic risks and screening guidelines.

The first section of the Color Genomics Report indicates the presence of risk-increasing mutations. It provides details on the mutation and describes the extent to which a patient’s DNA increases the risk for a disease or affects drug response. 

A Color Genomics report identifies potentially harmful genetic mutations.
The first section in the Color report describes the identified mutations.

If no risk-increasing mutations are identified it is also communicated clearly in the report. This example from a heart disease analysis shows a negative result. 

Report example if no clinically-significant mutations are found.
Report example if no clinically-significant mutations are found.

Report example if no clinically-significant mutations are found.

The next section provides information on how risk-increasing mutations might impact family members.

A Color Genomics report describes how this mutation may affect a patient's family.
A Color Genomics report describes how this mutation may affect a patient’s family.

The report then provides risk information and screening guidelines based on genetic testing results, family history, and other factors such as age. These recommendations come from experts such as the National Comprehensive Cancer Network (NCCN). 

A Color Genomics report provides screening guidelines.
A Color Genomics report provides screening guidelines.

The final sections describe the test methodology, limitations, and includes a disclaimer. 

A sample report for a patient with a BRCA1 (gene linked with hereditary cancer) mutations can be found here

A sample report for a patient with a MYH7 (gene linked with hereditary heart disease) mutation can be found here. A sample report for a patient without a MYH7 can be found here

Genetic Counseling Services

Both patients and physicians have access to ongoing consultations with in-house genetic counselors and clinical pharmacists. These professionals provide common genetic counseling services:

  • Walkthrough of the Color Genomics report
  • Discuss how the results could impact family members
  • Answer any questions the patient might have
  • Help the patient determine the best questions to ask their doctor 

This service sets Color Genomics apart from most other DNA interpretation sites. With Color Genomics, patients always have access to a professional who can help interpret the results.

Patients can schedule a genetic counseling session from their account. A genetic counseling session typically lasts less than an hour. 

Payments and Reimbursements 

Patients pay $249 for the Color Extended test. They can pay either in their medical provider’s office or at home with a credit card. 

Color only accepts billing from insurance companies for the Color Hereditary Cancer test. A patient must be eligible under their insurer’s medical policy. Additionally, they must order the test in-person in their medical provider’s office. If a patient chooses to order online, they must cover the full price of the test ($249). 

A medical provider will submit an online order through the Color Provider Platform. The online tool quickly determines if a patient is eligible for insurance billing. If eligible, Color Genomics will submit a claim to the insurance plan. 

Color Genomics does not accept insurance billing for Color Extended ($249, includes hereditary cancer, hereditary heart health, and medication response). It also does not accept insurance for the Color Family Testing Program ($50 for immediate family members of patients who test positive for a mutation).

Privacy Policy

Let’s review Color Genomics privacy policy and data sharing practices. Patients can choose to share de-identified genetic information with Color Data (a public DNA database) and third-party research studies. Patients can also provide consent to share their results with healthcare providers. 

Some individuals will be able to view a patient’s genetic results and health history. A genetic counselor reviews patient health histories in order to interpret the report. A certified medical professional reviews all genomic results before they are released. Additionally, the medical provider who ordered the test will automatically receive a copy of the results. 

Color Genomics contributes de-identified DNA data to public databases like ClinVar at the National Institutes of Health (NIH). This database serves as an archive of information on genetic variants and their relation to human health. 

A patient’s employer may pay (in full or part) for the DNA test through the Color Genomics Employer Program. Employers have the right to receive anonymized and/or aggregated data for analytic purposes. 

A patient’s healthcare system may also pay (in full or part) for the Color Genomics DNA test. Color Genomics may provide the healthcare system with genetic testing results and personal information. 

Color Genomics shares de-identified information (such as trends about the general use of their services) publically and with partners. They may also contribute de-identified data to studies, either their own or in collaboration with third-party research partners. 

Low Coverage Whole Genome Sequencing (LcWGS)

In October 2018, Color Genomics introduced low-coverage whole genome sequencing. Their goal was to help to make genetic testing more accessible and inclusive. 

Standard genotyping arrays only detect known genetic variants. The majority of sequenced genomes are from people of Caucasian and European descent. Thus, it can be surmised that genotyping arrays lack genetic variants for other populations. 

Color Genomics offers LcWGS with the goal to make genetic testing more useful to people who are not of Caucasian descent. LcWGS enables that because instead of testing for preselected mutations it samples the whole genome in an unbiased way. It is also much more affordable than high-coverage whole genome sequencing. 

Patients can choose to contribute their low coverage whole genome sequencing data toward research. Patients can also request a FASTQ file with the raw DNA data from the LcWGS. Color Genomics does not guarantee that this data has been analyzed or validated by their lab.  

Color Discovery

Patients who purchase a Color Genomics product will receive Color Discovery updates on an ongoing basis. The updates provide details about how genetic variants affect common traits. 

Through Color Discovery, patients may also be eligible to receive an ancestry report. This report is produced by comparing patient DNA to publicly available genetic information in the 1000 Genomes Project. These reference populations are broad. Thus, this ancestry DNA test results are less granular compare to 23andMe and AncestryDNA.   

Typical traits that are analyzed as part of Color Discovery.
Typical traits that are analyzed as part of Color Discovery.

As of 2020, Color Discovery is only available in the United States. Color Discovery, including the ancestry report, is not intended to provide medical advice or help make health-related decisions.  

Color Genomics in the News

In 2019, Forbes reported that the NIH awarded Color Genomics a $4.6 million grant. This money will be used to provide genetic counseling to participants in the NIH’s “All of Us” research program. 

The program aims to advance precision medicine for diverse populations. Enrolled participants provide health information and have their whole genome sequence sequenced. 

In January 2019, Color Genomics announced a new partnership with Chicago-based NorthShore University HealthSystem. In October 2019, they announced a similar partnership with the Louisiana-based Ochsner Health System. The goal of the partnerships are to integrate genetic testing into primary care, providing more people with access to genetic testing. 

Color Genomics Reviews

Color Genomics Pros/Cons

Pros

  • Access to genetic counselors and clinical pharmacists is included.
  • Ongoing patient support through counseling and physician involvement.
  • The tests are offered at a reasonable price ($249).
  • Health insurance can cover the cost of some tests.

Cons

  • Focused on common hereditary cancers and heart disease with little to no focus on general health.
  • Insurance covers selected tests only if ordered at a medical provider’s office.

Nebula Genomics

We finish our Color Genomics review with a comparison to Nebula Genomics. 

Nebula Genomics offers a 30x Whole-Genome Sequencing service that sequences 100% of your DNA for $299. This price is comparable with Color Genomics ($249), which sequences only a few genes. 

Color Genomics reports are limited to hereditary linked cancers, heart disease, and medication responses. In contrast, we provide our users with weekly updates based on the latest discovery that incorporates hundreds of genetic variants. We also give our users access to tools to explore their entire genome, deep ancestry reports, and enable them to download their raw DNA data. 

Nebula Genomics is not a diagnostic test. However, our 30x whole-genome sequencing data is produced in CLIA/CAP-accredited laboratories. Thus, healthcare providers and genetic counselors can use our data to provide medical advice. Individuals who believe they are at risk for a genetic disorder consult a healthcare provider before taking DNA sequencing tests. 


Color GenomicsNebula Genomics
DNA testing methodSequencing of up to 74 genesWhole-Genome Sequencing (all 20,000 genes and regulatory regions)
Tools to explore dataLimitedYes (learn more)
Ancestry reportingLimited Yes
Data accessLow coverage whole genome sequencing available upon request (FASTQ file only)Yes (FASTQ, BAM, and VCF files)
Cost$249 (insurance may reduce this cost for some patients with certain tests) $299
Aid for making medical decisionsYes (includes genetic counseling services) No, but CLIA-certified lab data can be used in consultation with genetic counselors and medical providers.

Color Genomics vs Nebula Genomics

Other alternatives to Color Genomics are Invitae, Myriad Genetics, and Ambry Genetics. Did you like our Color Genomics review? You can read more reviews here.

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