May 03, 2019

Credit: Adam Gault/Getty Images

Generally, patients have to show symptoms of a disease before they’re treated for it. But, increasingly, thanks to advances in precision medicine, some new treatments are focused on the prevention of diseases that people are most at risk for - and that risk is determined by their unique genetic data. While personalized medicine sounds great in principle, there are several challenges, including the cost. Antonio Regalado, senior editor of biomedicine for MIT Technology Review, and Carlos Bustamante, professor of biomedical data science, genetics, and biology at Stanford, talk to us about the past, present, and future of genetic data in health care.

Three Takeaways:

  • A disease - take diabetes, for example - will affect each of us differently, because of our distinct genetic codes. Bustamante argues that research needs to include more information from ethnicities across the globe, rather than just genes from those of European descent, to ensure that everyone can benefit from personalized genetic treatments.
  • How much tension will there be between healthcare and privacy? Probably a lot. Apple, Amazon, and Google are all entering the health care sector. Bustamante wonders whether we’ll be targeted by companies that have access to our health data, much in the same way that Facebook and Google show us ads based on our search history.
  • Up to 2,000 people in the US have retinal dystrophy - a disorder that causes impaired and worsening vision. The disorder is caused by a mutation in the RPE65 gene, a gene which is essential for normal vision. A gene therapy called Luxturna was approved in 2017 to correct this mutation. But it comes with a hefty price tag: $425,000 treatment per eye.

More Reading: 

  • When the Landsman family learned that two of their sons had Canavan Disease - an ultra-rare genetic brain disorder - they were told that no treatment was available. Regalado writes about how the family discovered a potential cure with gene therapy - a million dollar treatment that they would have to pay for themselves. 
  • The gene for blonde hair is different between populations. How was this discovered? About ten percent of those in the Solomon Islands have blond hair. Researchers assumed the gene had been introduced by Europeans. But, according to Bustamante, that assumption was wrong. In fact, it’s a home-grown genetic variant. He says this discovery underscores the need for more diverse genetic information; otherwise, he argues, we’re leaving a ton of interesting genetics on the table.
  • Being able to digest lactose past childhood is a weird, uniquely human trait. Slate looks at why some populations developed a mutated gene for lactose-tolerance, and why others didn’t.
  • 60 Minutes looks at attempts to cure sickle-cell anemia with gene therapy.

Carlos Bustamante, Sci & Tech, genetics, medicine, Antonio Regalado

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