Genetic Counseling is Under Hyped

In an excellent interview (YouTube; Apple Podcasts, Spotify) Dwarkesh asked legendary bio-researcher George Church for the most under-hyped bio-technologies. His answer was both surprising and compelling:

What I would say is genetic counseling is underhyped.

What Church means is that gene editing is sexy but for rare diseases carrier screening is cheaper and more effective. In other words, collect data on the genes of two people and let them know if their progeny would have a high chance of having a genetic disease. Depending on when the information is made known, the prospective parents can either date someone else or take extra precautions. Genetic testing now costs on the order of a hundred dollars or less so the technology is cheap. Moreover, it’s proven.

Since the early 1980s the Jewish program Dor Yeshorim and similar efforts have screened prospective partners for Tay-Sachs and other mutations. Before screening, Tay-Sachs struck roughly 1 in 3,600 Jewish births; today births with Tay-Sachs have fallen by about 90 percent in countries that adopted screening programs. As more tests are developed they can be easily integrated into the process. In addition to Tay-Sachs, Dor Yeshorim, for example, currently tests for cystic fibrosis, Bloom syndrome, and spinal muscular atrophy among other diseases. A program in Israel reduced spinal muscular atrophy by 57%. A study for the United States found that a 176 panel test was cost-effective compared to a minimal 5 panel test as did a similar study on a 569 panel test for Australia.

A national program could offer testing for everyone at birth. The results would then be part of one’s medical record and could be optionally uploaded to dating websites. In a world where Match.com filters on hobbies and eye color, why not add genetic compatibility?

Do it for the kids.

Addendum: See also my paper on genetic insurance (blog post here).