Welcome back to Careviser. After a long summer break (work on my new venture got hectic), I am back to writing! ❤️
Genome sequencing is a booming field of healthcare. It’s become a necessity to track covid-19 variants. Affordable genome sequencing was supposed to make personalized medicine a reality. This week, we discuss why it isn’t the case yet.
Christensen, K.D., Schonman, E.F., Robinson, J.O. et al. Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients; npj Genom. Med. 6, 72 (2021)
🗝️ Why it matters: There is still controversy about whether genome sequencing is beneficial to patients. It can be depressing for patients to know that they are predisposed to a certain disease. However, some argue that knowledge is power and that informed patients will make better lifestyle choices which will decrease their odds of becoming sick.
🔎 The study: they analyzed data from a randomized trial of genome sequencing in cardiology and primary care. They compared behavioral and psychological outcomes in patients who received genome sequencing and family history reviews vs. patients who only received family history reviews.
✅ Findings:
Physicians behaved differently in the two groups: they recommended more lifestyle changes to patients who received genome sequencing vs. those who hadn’t (23% vs. 12%). They also recommended lifestyle changes more frequently for patients who had a high-risk finding (68% more) which makes sense. Genome sequencing also influences the behaviors of physicians.
Overall between patients who received genome sequencing and the other group, there was no significant change in behavior observed...except again for patients with a high-risk finding who were about 50% more likely to have changed one of their health behaviors. And among these ones, the one who showed a positive emotional response to the disclosure were more likely to exhibit lifestyle changes as opposed to the ones who experienced fear or uncertainty. Positive emotions seem to perform better at helping people change than negative ones.
Looking at psychological responses, patients who underwent genome sequencing showed lower depression and seemed empowered by their test results vs. the control group. Interestingly, patients with high-risk findings showed less depression, anxiety and uncertainty after the disclosure than patients without high-risk findings. Maybe providers gave them more information about their potential condition than to low-risk patients which may have reassured them.
🚀 Opportunities ahead: The study shows that patients seem to be doing better when they are aware of their specific risks. Knowledge empowers them as opposed to worrying them. It also helps providers prioritize high-risk patients and help them decrease their odds of developing a disease.
The cost of sequencing a whole genome has been divided by over 100,000 folds (!!) in the past twenty years. The decrease in cost has been stronger than Moore’s law. Whole-genome sequencing is now affordable for consumers at less than a thousand dollars. This has led to some excess, with Veritas Genetics famously going down a few months after introducing a US$199 whole genome sequencing test.
A lot of consumers still don’t understand the difference between genotyping (offered by the likes of 23andme and Ancestry) and whole-genome sequencing. It explains why consumer genome sequencing hasn’t become widespread. Consumers don’t see the value and don’t understand why it’s much more expensive than genotyping.
Dante Labs is one of the whole genome sequencing companies still around. Founded in 2016, most of their traction these days is not coming from consumer genome sequencing but by sequencing covid-19 test results. They are part of a large surveillance program in the UK to detect variants.
Delfi Diagnostics is an impressive start-up applying whole genome sequencing on bloodworks to detect cancer earlier.
🤯 The problem: Existing cancer screening methods rely on known DNA mutations and alterations meaning that early detection of cancer is hard. Cancer is a race against time, the earlier it is detected, the easier it is to cure.
🤗 The solution: Delfi Diagnostics applies machine learning on whole-genome sequencing to recognize cancers on cell-free DNA fragments. They only need a single blood work to perform the analysis, meaning that their test is cost-competitive.
📈 The traction: Delphi’s methods were first published in Nature in 2019. They raised an impressive US$100m series A at the beginning of the year. They are well-positioned among other liquid biopsy players. Their lung cancer screening test received a Breakthrough Device Designation by the FDA this spring. They have started enrolling patients in several studies.
That’s a wrap for today! Don’t hesitate to reply to this email with comments, I read and answer all emails :)