Using 23&Me and Promethease To Understand Health Risks

Since I was in my early twenties, I've suspected that my sleep disorders were genetic - inherited from my father's side of the family. Ten years ago, my suspicions were confirmed when UCSF Laboratories of Neurogenetics found "very interesting findings" regarding the 'night owl gene' in my genome. In the past year, I've learned more about my genes through 23&Me, a direct-to-consumer genetic test, and Promethease, a personal DNA health report service.

23&Me provides information on an individual’s genetic predisposition for ancestry, traits, wellness and some disease risks. Different from sequencing, 23andMe offers genotyping, which means it examines small snippets of DNA for genetic 'variations.' Variations are also referred to as 'mutations,' 'variants' or 'SNPs,' which stands for single-nucleotide polymorphism.

In 2013, the FDA banned 23&Me from reporting disease risks - it was concerned people would act hastily on information about their genetics predispositions. For instance, a woman who finds out she is a carrier of the BRCA1 gene mutation might seek out an unnecessary mastectomy. However, in April of this year, the FDA relented and started allowing 23andMe to offer tests for 10 diseases, including Parkinson's and Alzheimer's. 

Because I wanted to know as much as possible about my disease risks, I used Promethease to get around the FDA's restrictions. Promethease takes the raw results from 23&Me and builds personal DNA reports of relevant SNPs that are sorted by magnitude. Promethease connects a SNP result to a record in the wiki SNPedia, which is like a Wikipedia of SNPs. As of today, there are 107,075 entries in SNPedia - researchers enter their new SNP discoveries every day.

Promethease is essential for finding out the good and bad regarding one's health. For example, my 23&Me raw data report indicates I have marker RS6920220 and links to an entry on the NCBI website regarding the marker's chromosomal location. Health-wise, that's not helpful. On the other hand, Promethease links to a SNPedia entry that explains the disease risk, medical implications and deeper research. In the future, as 23andMe adds more disease risks to its offerings, it could provide a more complete snapshot of one's health.

Through the combination of 23&Me and Promethease reports, I've learned I have a mutation of the CLOCK gene that influences sleep and activity patterns and affects evening preference. I've also found out that I'm predisposed to having nighttime myoclonus (a.k.a., periodic limb movement disorder) as well as suffer from lack of 'deep sleep,' which means I do not fall into the stage of sleep that is restorative.

All of this information has left me wanting to know more. Specifically, I would like to know the details of my PER3 gene and if I have the mutation of the CRY1 gene that recently made headlines for causing a longer circadian clock. Not only would this data further 'validate' my condition (not that I need that at this point) but I could use this information to fight my insurance company for the circadian sleep disorder drug Hetlioz, which costs $7,000 a month without insurance.

Unfortunately, 23&Me does not YET cover these circadian genes in its genotyping although that could change. In the meantime, I'm researching exome sequencing and whole genome sequencing - it's the subject of an upcoming post!

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