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For anyone wondering if there's any real benefit to having your genome sequence, here's my anecdote. Thanks to Promethease, I found out at a young age that I ha
by dcolkitt 5y ago
For anyone wondering if there's any real benefit to having your genome sequence, here's my anecdote. Thanks to Promethease, I found out at a young age that I had hereditary hemochromatosis. This condition basically results in the slow over-accumulation of iron over a period of decades. The symptoms are so non-specific that without genetic testing, it's very rarely diagnosed until major damage has been done.
However if detected early, the treatment is dead simple. Regular phlebotomies to keep iron in line. One trip to the blood bank every few months means that the disease has literally zero impact on health or quality of life. Without genenome sequencing, I likely would have lost 10-20 years of life, and even more in terms of quality adjusted years. And this isn't some freak corner case. As many as 1 in 200 Northern Europeans have the genetic condition.
- 1-6 5y agoI've been a proponent of regular blood-letting through blood banks. For those who can do it, it's really easy and it also goes to save lives.
- prepend 5y agoSadly promethese sold to MyHeritage in 2019 so I stopped using them due to privacy concerns.
- deleted 5y ago[deleted]
- dekhn 5y agoWould a whole genome sequence give you more actionable data than if you just did the normal gene panel test? https://www.labcorp.com/tests/511345/hereditary-hemochromatosis-dna-analysis https://www.labcorp.com/tests/511345/hereditary-hemochromato...