Wednesday, December 24, 2008

We have no clue what it really means....Merry Christmas

The scene, a roundtable of geneticists reviewing a case.

Geneticist 1: Well, some one (Non geneticist) astutely ordered genetic testing for condition X before we saw them. When we saw them we ordered a Chromosomal Micro Array (CMA) and a karyotype....

Geneticist 2: Well, did you ate least think of condition X?

Geneticist 1: Not really, it was pretty atypical for condition X so we thought we might find something with a CMA.

Geneticist 3: You'll certainly find things with a CMA. Now what the hell you will do with those rare deletions and duplication is another topic.

Geneticist 4 and Training Geneticist 5: "Chuckle, Chuckle"

Geneticist 1: Well, while we were waiting for the CMA, we were notified by the patient's family, they have condition X....

Geneticist 2: Wow, I would have thought it was Condition Y based on your presentation which would have been picked up on CMA.....

Geneticist 1: Well, we did pick up something on CMA...

Geneticist 5: Let me guess, a rare unknown duplication

Geneticist 1: Correct, how did you know???

Training Geneticist 5: 50-50 shot.

Geneticist 2: So now what will you do.

Geneticist 1: Same thing we always do. Test mother and father, if they're "normal" we will say it is a benign event......

Training Geneticist: Too bad we can't say "We have no clue what it really means....Merry Christmas"

Close scene....

Today this is happening at an alarming rate in clinical genetics services in academic centers everywhere.....

Here's the catch.....It will only get worse before it gets better, and it will take a very long time or 10 million people to make it better.

We really have no idea what is in store when we start looking at all these genomes....My guess is that even the smartest geneticist will be rendered a bumbling idiot at least 10 times in the next decade.....

The Sherpa Says: A smart entrepreneur finds solutions to this and many other problems that wil stem from this crazy genomic data......and when Francis becomes NIH director, the US will turn into DeCode/Iceland, it is the only way to figure this stuff out.....too bad the public isn't ready for it.....Franics is no Kari and the US is no Iceland....Merry Christmas!


Anonymous said...

Not really related to your specific example, but I've been wanting to say this for a while already.

One thing we need, which is not done from what I've seen, are studies that show how common mutations that result in the development of a disease that are also present in healthy people that don't have the disease.

These are the type of studies we need to have to really understand everything.

These type of studies would need a lot of funding and support.

- Find well populated small cities (~100,000 people)

- Enroll as many people as one can...healthy people

- Compare those results to results with people who have the same gene mutation but have the disease

- Try to figure out why some people have the disease and others don't.

- This would need to be done in all age groups (depending on the condition) and ethnic groups.

- Need to take into account BMI, exposure to environmental toxins, family history, and much more.


Anonymous said...

Consider this: For every 10,000 humans with enough genetic pathology to be considered a "case," 1000 will see a health care provider, 100 will be recognized as possibly "genetic," 27 will be referred to a geneticist, and one will have the privilege of being reviewed by a group of four.

Steve Murphy MD said...

@ Anonymous(Study Design)

Exactly. This study needs to be powered properly. But yes, once Francis is head of NIH I am sure this one will get funding...


Steve Murphy MD said...

@ Anonymous 10k humans

I totally agree, now what if we could have a case reviewed in real time over video conference or phone/fax?????

Most genetics clinics only are open a couple days a week!


Anonymous said...

I learned today that gout can be present in a family history and people don't know it.