医疗保健上升/下降: The End of Trial-and-Error Treatments

7.24.23

心电图’s radio show and podcast, 医疗保健上升/下降, offers unfiltered perspectives on what’s working in US healthcare and what’s not. 博士主持. 尼克·范·特海登, each episode features guest panelists who explore the upsides and downsides of healthcare in the US—and how to make the system work for everyone.

大约十年前, “genotyping” and “genetics” became household terms, thanks in part to 23 and Me—a personal genomics and biotech company based in California. 23 and Me was not the first company to sequence genomes, but it was the first to offer a simple, 负担得起的, direct-to-consumer model of genetic testing.

What unfolded subsequently left something of a bad taste in many people’s mouths, as the company has spent many years wrangling with the FDA and other regulatory bodies concerning how their products are marketed and sold.

But for the geek and digital health fan in me, this was a new door to be opened. I obtained partial sequencing and then followed this up with more exploration and study. 随着领域的开放, I wondered how this data could be incorporated into general healthcare practice and decided to test this out for myself. Full exome sequencing remains a physician-ordered activity, so I persuaded my poor long-suffering general practitioner (GP) to order the test for me.

The test was easy—a blood draw and then a wait. When my GP got the results, I eagerly scheduled a visit with him to review the findings. But when the day came, I was disappointed.

The experience was a testament to how not ready the healthcare system was for any kind of genomic data. The results arrived on a USB stick, with files approaching gigabytes of data, along with a multipage summary report of findings in paper form. My GP didn’t know what to do with the mountain of data. He scanned the paper results into my record, discarded the USB digital data, and since there was no immediately actionable information, 转到下一个任务.

As we continue to make strides with genomic sequencing, how do we incorporate the new data and the incredible opportunities it offers into our healthcare system?

Nick Glimcher is the CEO of Blue Genes, a lab that’s using genetic data to ensure patients will be prescribed drugs that will be most effective for them. On episode 83 of 医疗保健上升/下降, he explains how genomic sequencing can be used to achieve more personalized medicine.

Making genomic data clinically viable.

“23 and Me opened the door to the normalization of having the information available. 不幸的是, where it falls short is that the information doesn’t fit into the current clinical workflows. So it’s not applicable in the everyday clinical situation where you have a patient and provider interaction. We cannot depend on providers to apply this information, either [due to] lack of knowledge or time to review these reports. What we’re trying to do at Blue Genes is move data quickly through the system and make it clinically viable.”

Financial benefits for patients and payers.

“If a drug’s not going to work, there’s no sense in [patients] taking it. Healthcare is a trial-and-error system. That’s why they call it the practice of medicine. ‘If this doesn’t work, come back and see me and we’ll try something else.’ That’s particularly true when you talk about behavioral health—there is no rhyme or reason to how a provider may pick an SSRI. So when we can apply this information, and it doesn’t weigh down the clinical workflow process, it is ultimately going to help the patient and then protect the plan as it relates to costs.”

更有针对性的药物治疗.

“We live in the most overmedicated society on the planet. We’re prescribing new medications to counter the side effects of other medications; that needs to cap out somewhere. 制药药物, just because they’re approved by the FDA, doesn’t make them ultimately healthy for the patients. What we’re trying to do is to make sure the right drug, genetically speaking, is prescribed. Ninety-five percent of the variability between how patients react to medications is due to genetic profiling. So if we can impact a little bit of that, we’re going to help protect patients.”

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