Wednesday, August 19, 2009

Family History, State of the Science

The NIH/CDC is hosting a conference next week. I conference I wish I could go to, but alas, I will be DOING family histories on my patients that week.

The conference will be held at the NIH in Bethesda. This is an NIH state of the science conference about Family History and its usefulness.

I for one, am very glad that the government is trying to address this super important issue. It is beyond due for an evaluation.


With the cost of a genome going to drop to 5000 USD by the late fall (trust me), we will soon see another level of DTC and Clinical lab set offering the genome as a predictive tool.

There are several reasons that Family History beats a Genome (For Now)
1. Phenotypic data of family history represents complex interplay of genes and environment

There is no way that a simple genome will be able to give us the story of how a human will develop. That is predicted by environment and genes, which are successfully covered by.....
A family history.

2. 5000 USD is still more than what it costs to obtain a family history.

By the time the software tools are released, we will see that social networking and the internet will transform the costs of family history next to nothing. Which is still a long way to go for the genome scans.

3. We have no clue what most of the genome data means.

Indels or CNVs or SNPs, we have no freaking clue what most mean, we do know what a heart attack at 40 means.......

4. Even if we had everyone's genome scans, we would still need phenotypic data and pedigrees.

What's the one thing we do when we have an intellectually delayed child with an abnormal CMA/CGH? We test the parents. Looking for THEIR phenotypes to make sense of the genome mess.

Look, people always give me reasons why the genome is important and a family history is useless.
I've heard them.

-"We don't speak with that side of the family"
-"My father lived with his uncle, because his father died (secretly running the empire as Darth Vader)"
-"I was adopted by Bail Organa, only to find out I have a lost twin brother"

There is one thing that will always be certain over time, there will be some screwed up family dynamics making it difficult (BUT NOT IMPOSSIBLE) to obtain an accurate family history.

That being said, it is still often useful to capture those who you can. And still less expensive.

I look forward to the briefings from this conference, and Muin, if you are listening, I would love to have the link to the webcasts.... Oh wait, they have that too! Sweet.

If you can't be there, you can get the information you seek!

Once again, we need a state of the science on genome prediction, not a consensus statement a real eval of the state of the science. When placed side by side with the state of the science for a family history, we will soon see why family history is the preferred screening tool and will likely to continue that way, perhaps in conjunction with a genome scan, but genomes will NEVER replace family history.

The Sherpa Says: The press better be at this conference and report on Family History. And to the founders of, you missed on this one when Tindall presented to you. Or maybe you just are going to steal the idea.........


Anonymous said...

I don't think anyone rational is saying to erase family history collection from standard practice and replace it with genetic risk-assessment. This myth that genetic risk proponents want genetic risk-testing as the end-all-be-all must stop. It does more to hurt the future and success of genetic risk testing than the DTC companies, who also emphasize to the best of their ability that it should be used in conjunction with other traditional risk factors. The myth only propagates genetic fatalism, something those working in the field of genetics try to combat fiercely. Genetic risk-assessments can be used as additional tools to motivate positive behavioral change, not as replacements to anything physicians already use.

Steve Murphy MD said...

The DTC marketing would lead you to think otherwise.......

Come on, don't be so disingenuous. They have to devalue family history to make their service valuable......

Seriously? Come on, you have to see that......


Danny said...

Fair point, Steve. I did mean to add that I agree with you (to an extent) that the DTC Companies need much more regulation and are dangerously running loose, threatening how some may view genetic risk-assessments in the future. However, the "to the extent" comes in place when you look at studies that show for some diseases like colon cancer and CHD, genetic risk factors have ORs similar, and in some cases greater than, traditional RFs. There are plenty of studies coming out within the past two years showing that genetic tests have personal utility. Whereas the DTC companies perhaps inflate the clinical validity of these tests, it is also important not to take the other extreme IMO. As I said, I strongly believe those of us in the genetic fields need to emphasize how these genetic RFs can be incorporated with other RFs to develop personal health plans.

Steve Murphy MD said...

I agree. A great example would be Reynolds Risk, which has 2 genetic components to it, family history and CRP level, the big problem is that CRP polymorphisms do not equate to the same risk as the actual CRP levels....

For more info on genetic risk factor incorporation to current risk models check out my post
and GenomeWeb's recap


Term papers said...

I never thought of it like that, but it really is true.