Sequencing the human genome for the first time was an incredible feat. Twenty years ago this week, the sequencing project was completed with the promise that it would transform how we predict, prevent, and treat almost all human disease.
With such an important discovery under our belt, one would believe we are now on the cusp of a new phase in personalized healthcare, one that uses genetics to inform every patient journey. Yet, we are still far from the delivery of personalized healthcare for everyone. The problem is not a lack of scientific progress, but rather a failure to implement widespread genetic testing and personalized medicine for all who could benefit from it.
There are meaningful genetic risk markers identified for hundreds of important health conditions. Increasingly, we know that common and serious health conditions, such as heart disease and diabetes, have both genetic and environmental influences. Using models that combine up to thousands of genetic variants, we can identify who is at highest risk for disease, and use that knowledge to guide healthcare and lifestyle decisions to help prevent the disease or find it earlier.
Today, there aren’t clear guidelines for how to use genetic information in preventive health and most healthcare professionals are not yet equipped to bring genetic testing into routine practice.
Even for conditions where there are clear guidelines, like those influenced by specific variants in well-known genes, we don’t do a great job of identifying the people who would benefit from genetic testing and personalized management.
People with BRCA1 and BRCA2 genetic variants carry a substantially higher risk for breast, ovarian, and other cancers, yet a study by researchers at Geisinger reported that more than 80% of people with a BRCA1/2 variant did not know they have one. Current guidelines for clinical genetic testing and reimbursement typically rely on patients having a personal or family history of cancer or knowing their ancestral background (since some populations, including those of Ashkenazi Jewish ancestry, are at higher risk). We now know that almost half the people with genetic variants in BRCA1/2 don’t qualify for testing based on these guidelines, sometimes because they don’t know their ancestry, which suggests that broader access to genetic testing is needed.
In some cases, there may be opportunities for broader access to genetic testing to help address existing health disparities. For example, we know that a variant in a gene called TTR is common in people of West African descent and increases risk for heart failure. In fact, approximately 10% of African Americans over the age of 60 with congestive heart failure are thought to have this variant, but most never know they have it. With new targeted therapies entering the market at a rapid pace, it becomes increasingly important to find the right people who would benefit most from treatment early on.
Genetic testing already plays an important role in guiding medications we use to treat common conditions. As far back as 2007, the FDA added labeling to the anticoagulant Warfarin noting the importance of genetic factors in how a patient would respond. In 2010, the FDA added black-box labeling to another anti-blood-clotting medication, Clopidogrel, noting the importance of a person’s genetics in how a patient would metabolize the drug. Several states even sued the manufacturer of Clopidogrel, citing that significant percentages of their populations did not respond to the medication.
Antidepressants and statins (cholesterol-lowering medications) taken by millions of people are also influenced by differences in genetics. Some of the warnings for dozens and dozens of commonly prescribed medications note that genetics can play a role in whether a patient will or will not respond well to that drug, or even have an adverse reaction, but very few patients are ever tested prior to prescribing. A recent study showed that patients could experience 30%fewer serious adverse reactions if their medications were tailored to their genes. Despite overwhelming evidence that genetic testing is key to improving the way medication is prescribed, only in rare instances are patients tested first to see how they might respond to a medication before it is prescribed.
We have an incredible opportunity to leverage genetic testing and transform how we predict, prevent, and treat many diseases. Tens of millions of consumers have purchased and taken a DNA test. Consumer demand is there. Doctors are also ready for this information. A survey we conducted along with Medscape found that two-thirds of doctors feel using genetic testing could lead to better outcomes for their patients and over 90% say genetics are an important part of a patient’s complete health picture.
As we celebrate the 20th anniversary of the sequencing of the human genome, it’s important for consumers, healthcare professionals, and healthcare industry leaders to recognize the potential we all have with the adoption and integration of genetic data into routine healthcare. Ushering in more personalized healthcare is within our reach today.
Anne Wojcicki is the co-founder and CEO of 23andMe.
The opinions expressed in Fortune.com commentary pieces are solely the views of their authors and do not necessarily reflect the opinions and beliefs of Fortune.
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