23andMe CEO: ‘The human genome revealed its secrets and techniques 20 years in the past. It’s time to satisfy its promise of customized well being care’
Sequencing the human genome for the primary time was an unimaginable feat. Twenty years in the past this week, the sequencing mission was accomplished with the promise that it might remodel how we predict, forestall, and deal with virtually all human illness.
With such an essential discovery beneath our belt, one would consider we are actually on the cusp of a brand new part in customized healthcare, one which makes use of genetics to tell each affected person journey. But, we’re nonetheless removed from the supply of customized healthcare for everybody. The issue just isn’t a scarcity of scientific progress, however reasonably a failure to implement widespread genetic testing and customized drugs for all who may benefit from it.
There are significant genetic threat markers recognized for tons of of essential well being situations. More and more, we all know that widespread and severe well being situations, reminiscent of coronary heart illness and diabetes, have each genetic and environmental influences. Utilizing fashions that mix as much as hundreds of genetic variants, we are able to determine who’s at highest threat for illness, and use that data to information healthcare and life-style choices to assist forestall the illness or discover it earlier.
As we speak, there aren’t clear tips for the right way to use genetic data in preventive well being and most healthcare professionals should not but outfitted to convey genetic testing into routine observe.
Even for situations the place there are clear tips, like these influenced by particular variants in well-known genes, we don’t do an ideal job of figuring out the individuals who would profit from genetic testing and customized administration.
Folks with BRCA1 and BRCA2 genetic variants carry a considerably increased threat for breast, ovarian, and different cancers, but a research by researchers at Geisinger reported that greater than 80% of individuals with a BRCA1/2 variant didn’t know they’ve one. Present tips for medical genetic testing and reimbursement usually depend on sufferers having a private or household historical past of most cancers or figuring out their ancestral background (since some populations, together with these of Ashkenazi Jewish ancestry, are at increased threat). We now know that just about half the individuals with genetic variants in BRCA1/2 don’t qualify for testing primarily based on these tips, generally as a result of they don’t know their ancestry, which means that broader entry to genetic testing is required.
In some circumstances, there could also be alternatives for broader entry to genetic testing to assist deal with present well being disparities. For instance, we all know {that a} variant in a gene referred to as TTR is widespread in individuals of West African descent and will increase threat for coronary heart failure. In truth, roughly 10% of African Individuals over the age of 60 with congestive coronary heart failure are thought to have this variant, however most by no means know they’ve it. With new focused therapies coming into the market at a fast tempo, it turns into more and more essential to seek out the suitable individuals who would profit most from therapy early on.
Genetic testing already performs an essential function in guiding medicines we use to deal with widespread situations. Way back to 2007, the FDA added labeling to the anticoagulant Warfarin noting the significance of genetic elements in how a affected person would reply. In 2010, the FDA added black-box labeling to a different anti-blood-clotting medicine, Clopidogrel, noting the significance of an individual’s genetics in how a affected person would metabolize the drug. A number of states even sued the producer of Clopidogrel, citing that vital percentages of their populations didn’t reply to the medicine.
Antidepressants and statins (cholesterol-lowering medicines) taken by thousands and thousands of persons are additionally influenced by variations in genetics. A number of the warnings for dozens and dozens of generally prescribed medicines observe that genetics can play a job in whether or not a affected person will or won’t reply properly to that drug, and even have an antagonistic response, however only a few sufferers are ever examined previous to prescribing. A latest research confirmed that sufferers might expertise 30percentfewer severe antagonistic reactions if their medicines have been tailor-made to their genes. Regardless of overwhelming proof that genetic testing is essential to bettering the way in which medicine is prescribed, solely in uncommon cases are sufferers examined first to see how they could reply to a medicine earlier than it’s prescribed.
Now we have an unimaginable alternative to leverage genetic testing and remodel how we predict, forestall, and deal with many ailments. Tens of thousands and thousands of shoppers have bought and brought a DNA check. Shopper demand is there. Medical doctors are additionally prepared for this data. A survey we carried out together with Medscape discovered that two-thirds of docs really feel utilizing genetic testing might result in higher outcomes for his or her sufferers and over 90% say genetics are an essential a part of a affected person’s full well being image.
As we rejoice the twentieth anniversary of the sequencing of the human genome, it’s essential for shoppers, healthcare professionals, and healthcare trade leaders to acknowledge the potential all of us have with the adoption and integration of genetic knowledge into routine healthcare. Ushering in additional customized healthcare is inside our attain immediately.
Anne Wojcicki is the co-founder and CEO of 23andMe.
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