DTC

Direct-to-Consumer Genetic Testing: Summary of a Workshop
Aquestes tres sigles potser d'entrada no us diuen res, però al darrera hi ha una polèmica considerable. "Direct to Consumer" es refereix sobretot en aquest moment a les proves genètiques. Els llibres de IOM-NAP ajuden a comprendre la realitat de la medicina i un de darrer va sobre proves genètiques.
El repàs als temes clau que deixa oberts és gran. Em centro en un que està sorgint aquí aprop com un bolet: el consell genètic. I què és això?

The process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Counselors interpret family and medical histories; educate clients about inheritance, testing, management, prevention, resources and research; and counsel them to promote informed choices and adaptation to the risk or condition.

I sobre DTC assenyala:

Some DTC genetic testing companies offer genetic counseling—via telephone or the Internet, or sometimes in person—as part of their testing services. Some have counselors on staff, and others contract with specific counselors and refer clients to them. And at least one charges its customers for the service—$250 per hour.20 Several DTC testing companies currently offer genetic counseling services to their customers at no additional charge, so there is no cost barrier. It appears, however, that clients often are not aware that these services are available—or even what genetic counseling is—and thus do not always benefit from
them

Una mica d'ordre a les idees convé quan s'està en un moment emergent. Si qui ven la prova fa el consell genètic, ja tenim la demanda induïda. Si creem unitats de consell genètic, l'oferta crea demanda. Ara i aquí, és l'hora de la planificació, o potser hem fet tard?

The p53 nightmare

p53 and Me

This week you'll find a short piece in NEJM, a story written by a physician on how detecting a genetic p53 mutation changed her views. Key message:

Genetic knowledge is power only if both clinician and patient are equipped to move beyond a result and toward action, even if that merely means living well with what we know. I believe we need an expanded definition of genetic counseling; we require more data, yes, but also more sophisticated and sensitive ways of assimilating such data. And not just into databases we can mine to see what happens to people like me, but into programs for learning to live with uncertainty.

A must read

Organising genetic testing

Finally the government has decided to organise genetic counseling and testing. A recent instruction determines who does what. As you may remember I've said several times that government was on permanent holiday on this issue.
In this new instruction, at least two issues are forgotten: the tests that are covered, and the proliferation of sequencing instruments outside the lab. These are not minor issues.
Somebody should decide asap wether a test it is worth to be prescribed. Right now, there are no explicit constraints under the current instruction. And DNA sequencing instruments may be found in many departments under the consideration of research. If there is no clear split between research and care, I can imagine a close future with many messy labs within any hospital. Concentration of knowledge and specialisation provides wider guarantees for quality. Unless there is any mentorship program by clinical laboratories, things will go down the wrong path. Today I'm more worried than yesterday, unless these two issues are fixed.