Fifteen years ago, the Human Genome Project announced the completion of the first human genome. This was a moon landing scale endeavor that took billions of dollars in combined public and private investment — to sequence one single human genome.
Since then, scientists have derived countless insights from the genome, deepening our understanding of disease and discovering new therapies. However, the benefits of genetic insights to prevent, detect, and treat disease have remained inaccessible to the majority of the population due to incomplete medical evidence and cost/convenience hurdles.
To help deliver the promise of genomics to every person, some of the top health systems in the U.S. including Jefferson Health, University of Washington, University of Chicago, and University of California, San Francisco, are partnering with Color to launch population testing for cancer and heart disease. This will be done through Color Population Health, Color’s end-to-end solution for health systems that want to integrate genetics into standard medical practice. Color Population Health is precision healthcare for the masses, integrated with research capabilities to help accelerate the mountain of discoveries that remain to be made, while saving lives today.
This is a transformative step. Until now, getting genetic testing required patients to jump through multiple hoops, meet restrictive guidelines, and perhaps pay thousands of dollars out of pocket. These health systems are making it extraordinarily simple to test for the ten most established and actionable cancer and heart disease genes — easier than a cholesterol test and accessible to everyone.
Offering population-level access to preventive genetics in a responsible way is only possible through the combined efforts of numerous medical, scientific, policy and private sector teams representing a cross-section of medicine, science and health economics. There are many building blocks required to effectively deliver population genetics, but I keep them out of the body of this post for the sake of brevity (you can find them below).
The main takeaway is that we have reached a pivotal moment in the history of genetics, as the science required to offer genetic testing for every person and the technology to deliver it at scale have finally come together.
Population screening today starts with 10 out of the more than 20,000 genes in the human genome and covers a fraction of the risk for cancer and heart disease. However, this is an important first step because it represents potentially life-saving genetic information being responsibly delivered to entire populations. By crossing the threshold for universal access, we have the opportunity to help millions of people live longer and lead healthier lives, while creating an environment that powers the next phase in our understanding of disease and its management.
We believe that 2018 will be remembered as the year when, through a combination of diligence and creativity, the scientific and medical communities took us from the era of the human genome to that of the genome for humanity.
# # # The Building Blocks ###
1. The Essentials (a medical and scientific baseline)
High-impact genes. Population health starts by identifying a set of high-impact genes for which there is a strong gene-disease association across the broad population, not just people with a strong family history or within a specific ethnic group. For example, a study by Narod et al (and supported by numerous others) find that mutations in the BRCA1 gene increase women’s breast cancer risk from 12% to more than 60% in women without family history and as high as 81% for women with a family history of breast cancer.
Established clinical interventions. There must be well-defined preventive measures that are broadly accepted by the medical community. The NCCN’s preventive recommendations for women with high breast cancer risk have been shown to provide greater benefit than the potential harm caused by over-diagnosis (The case for population screening for BRCA, Lynch syndrome, and familial hypercholesterolemia).
Economic benefit. The test needs to show that the costs it helps avert by preventing or diagnosing disease earlier outweigh the cost of the testing itself. A study by Long and Ganz published in JAMA Oncology found universal BRCA1 and BRCA2 screening to be as cost-effective as mammography, which is already a widely accepted standard of universal care worldwide.
Under-diagnosis. More than 20 years after Dr. Mary-Claire King discovered the BRCA1 gene, some 90% of women with BRCA1 mutations in the U.S. remain undiagnosed. Similarly, Color’s data finds that half of all women found to be carriers of mutations lack a family history that would allow them to get tested based on current guidelines. Every day that passes without them knowing their genetic status is a missed chance to proactively address their risk.
2. Implementation (enabling access at scale through technology)
The essentials above establish the merits of population screening. But population-level preventive genomics can only be achievable when a series of practical challenges are overcome.
How do you make it simple?
Complex integrations, protocols, billing systems and product choices put a massive burden on the delivery of care. In working with some of the world’s largest employers, we have learned that population testing requires a simple implementation process. Color’s goal is to enable any company or health system to go live in a single day.
How do patients gain access?
In most countries, but particularly in the U.S., health disparity is one of the sharpest edges of the economic divide. Uninsured women are half as likely to get a mammography screening than insured women. Black women are 42% more likely to die from breast cancer than white women. Whereas only 20% of people getting tested today are non-Caucasian, we have seen more than double that ratio (44%) through Color’s population testing program with employers.
Accessing one’s own genomic information used to involve up to four in-office visits. As much as financial barriers, convenience hurdles disproportionately impact less affluent and rural populations. By making genetics come to you (online or at your job, community center, place of worship, etc.), instead of you investing hours jumping through hoops, we can begin to address this hurdle.
How do patients and doctors understand the information?
Given the high stakes and nuance that come with health risk information, it is essential to ensure that people clearly understand their genetic test result. This is why Color makes complimentary access to board-certified genetic counselors an integral part of the process. Access to a trained professional who can help interpret one’s test and explain recommended screening and prevention guidelines helps ensure that this information is not only understood, but utilized for the appropriate follow-ups as advised by national guidelines.
One of the greatest challenges and opportunities of modern healthcare is that of empowering patients with their own health data, but doing it in a way that’s integrated with health providers.
Most doctors who historically dealt with genetic data were specialists such as oncologists. Today we are seeing primary doctors, OBGYNs, psychiatrists, etc. becoming first-line medical consumers of genomic information. Color has designed all of our physician interfaces, clinical reports and educational content specifically with these doctors in mind.
How is patient privacy protected?
As we enter a time when vast amounts of health information are digitized, it is critical for various service providers to grant patients full access and control to their own data, while developing a robust framework that protects their privacy and ensures that this information is securely managed.
Color’s data privacy framework can be summarized as follows:
1) Security / HIPAA: We have implemented industry-standard security and information control guidelines designed to protect health information.
2) Control: Our belief is that you should be empowered to control how your personal health information is used.
3) Access: People should be given simple ways to control how their personal health information is accessed — in particular enabling them to make such information available to doctors or other service providers who can help them utilize that information to better manage their health.
4) Research Consent: People should be clearly informed of research initiatives that they may be interested in supporting, and be conveniently empowered to contribute their data to advance science. In our experience, contributing de-identified data to research can support important work, while at the same time safeguarding individual privacy.
How do patients stay engaged and follow up?
Finally, the value of a population screening program is only realized if the information is used to support positive changes in people’s behavior and care.
1) Personal follow-up:
The screening program needs to integrate a mechanism that helps patients follow recommended guidelines while maintaining long-term engagement with preventative care.
2) Cascade screening:
While first-degree family members of individuals with a genetic mutation have a 50% chance of having the same mutation, today few people share their test results with family members. Dr. Allison Kurian of Stanford University recently presented data finding that Color’s Family Testing Program delivers substantially higher uptake rates on cascade testing thanks to simplicity and convenience.
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