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Genetic Testing

October 29, 2023

A couple of years ago, my wife and I used 23andme for at-home genetic tests. We got some interesting interesting ancestory information, but what was even more compelling was the health diagnostics. Though obviously not medical advice, and only at a high level, the test alerted us of things like increased risk of diabetes on my wife’s side (not surprising due to family history), and more comical things like me having muscle composition comparable to elite athletes (but I guess that’s motivation to put on my running shoes!).

Since the Human Genome Project was deemed to be completed in 2003, applications for DNA sequencing and genetic testing have proliferated. Applications range from screening for disease risk and diagnosing health problems to over-the-counter ancestory analysis. To show the extent to which genetic testing is now a part of modern medicine, we can compare the number of types of genetic tests available globally as reported to the Genetic Testing Registry run by the US National Institute of Health in 2012 vs 2022. (see chart below).


The testing and screening applications that have emerged have helped advance the field of precision medicine, that is thereapeutics and treatments that are individualized and take into account things like genetic risk factors, personal health history, and lifestyle. Tests have been developed, for example, to see whether or not someone may benefit from specific cancer therapies. Obstetrics is a field that seems to have embraced genetic testing. My wife and I underwent carrier screening and she had an NIPT (non-invasive prenatal test) in her 1st trimester of pregancny to test for chromosomal issues.  

But there are some downsides to genetic testing. For one, knowing you are a carrier for a gene that does not manifest itself may cause unnecessary anxiety. Another is getting false negatives from a non-comprehensive test (like the ones available over-the-counter), whereby giving a false sense of security for a condition that should be more thorouoghly tested for.  

While Somar generally does not invest in biotech companies since that isn’t our core competancy, we do follow innovation and the consumer space. While consumer-focused genotype sequencing companies (like 23andme and are interesting, they face a fragmented market, limited consumer appetite (someone may get a test once and will not purchase anything else), and strict health privacy constraints. They are also seen primarily as novelty rather than a health tool. If comprehensive genetic testing and DNA sequencing (like that done by the big player in the space, Illumina), become more routine and the costs continue to come down (see chart below), they face even bigger challenges. However, even if your genes can be sequenced for $200, the big question is how does that information become actionable? It thus becomes an area to pay attention to, if not for investment reasons than for personal ones.


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