“Genomes, Hype, and a Realistic Pathway to Personalized Medicine”

Earlier this month I was privileged to attend a very interesting and informative presentation that was the first of the 2012/13 Chancellors' Lecture Series at Vanderbilt University. It was presented by Dr. Dan Roden and was entitled 

“Genomes, Hype, and a Realistic Pathway to Personalized Medicine”

Since most of you do not live two miles from Vanderbilt University, you will have to settle for a YouTube like version of his presentation which is linked above.

In addition to my intense interest in the subject matter, Denise and I had a couple of personal ties that compelled us to attend. Both of us have been beta testers for the PREDICT database that is being built by Vanderbilt to use genetic testing to forecast the response a given patient will have to a given drug. So far we have only been given the results (part reproduced below) of how our genes predict how we will react to two widely prescribed drugs--Plavix and Simvastatin:  

Clopidogrel (sounds like "kloh-PID-oh-grel") is a blood thinner used to prevent clots that can cause a heart attack or stroke. Your genes can affect how well the drug works. This genetic test identifies how well you may respond to clopidogrel. Clopidogrel is a blood thinner (brand name Plavix). When the cells in your blood stick together, you can form a harmful clot or have a stroke. Clopidogrel is used to help prevent blood clots from developing, for example, for people who have had a recent heart attack or stroke. However, clopidogrel does not prevent harmful clots or strokes the same for all people.    

Simvastatin (sounds like "sim-va-stat-in") is a medication that lowers fatty substances in the blood (brand name Zocor).

Examples of fatty substances are cholesterol and triglycerides. Simvastatin lowers the levels of LDL cholesterol ("bad cholesterol"). At the same time, simvastatin raises HDL cholesterol ("good cholesterol"). Although rare, people sometimes have a bad reaction to the drug. Your genes can affect your risk for bad reactions to the drug. This genetic test identifies your risk for a bad reaction to simvastatin.

My results from the PREDICT test indicate that I will process both of these drugs normally. My wife, Denise is red-flagged on both of them:

In some patients, simvastatin may cause muscle pain, tenderness, or weakness. Your doctor, often with the results of a lab test, can determine if your simvastatin medication is the cause of these symptoms.

The results of your test show that you have one version of the gene that may put you at increased risk for this negative outcome.

These results were not unexpected as we have similar results from 23andMe. However, it was somewhat reassuring to have the results replicated.  In addition Denise self discovered several years ago that statins give her severe leg cramps.


Our second personal draw to attend this lecture is that Dr. Roden is our daughter-in-law's genetic cardiologist. As she tells it, she knows him well; but he knows her better.


Vanderbilt now has linked 150,000 patient medical records with genetic information. The goal is be able to prescribe drugs that do what they are expected to do and don't make the patients sick. Although testing is being done on 184 variant genes that may predict reactions to 58 different drugs, so far associations are viewed as being reliable enough to embed them in patient records (available to patients and their doctors) for only the two types of drugs reported above. At present Vanderbilt is only one of two hospitals who make this link between patient genetic history and patient medical records. This number hospitals and genetic to medical information links should expand considerably over the next few years.

I hope you will want to watch this presentation excellent.

 “Genomes, Hype, and a Realistic Pathway to Personalized Medicine”

 

FTDNA 72 Hour Sale

FTDNA has announced a 72 hour sale for mitochondrial and autosomal DNA tests. Does this reflect the increased competition now that Ancestry has joined FTDNA and 23andMe in the autosomal testing marketplace? Maybe and maybe not. Periodic sales have been around in this marketplace before Ancestry recently joined this segment of the DNA testing arena.

Bennett Greenspan sent the following announcement to project administrators:

This is a courtesy e-mail to you about a sale we are announcing to all of our customers, therefore you do not need to re-post it in your administrator's bulk e-mail system. It seems every time we run a flash sale a few people e-mail us days later they were traveling, sick or just had not looked at their e-mails in time, so for all of you who want to entice a friend, neighbor or reluctant relative to get involved in Genetic Genealogy here's one more opportunity, but it will last for only 72 hours. We are gearing this sale for newcomers and upgrades by promoting the Family Finder and the Full Mitochondria Sequence (FMS). This sale starts Friday, September 28, at 12:00am and ends Sunday, September 30, at 11:59PM. New Kits Current Price SALE PRICE Family Finder $289 $199 mtFullSequence $299 $199 Family Finder + mtFullSequence $559 $398 Upgrades Current Price SALE PRICE Family Finder $289 $199 HVR1 to mtFullSequence $269 $199 HVR2 to mtFullSequence $239 $199 mtFullSequence $289 $199

As with all promotions, orders need to be placed by the end of the sale and payment must be made by end of this sale. Learn More

Both men and women can take any of these tests. The mtFullSequence and the upgrades will provide information that has been passed down by mothers through their umbilical cords to all their children. Men cannot pass it down to their offspring. Mitochondrial DNA can trace maternal lines back through scores of generations.

Family Finder tests autosomal DNA for near relatives up any ancestral line. 

Where Did The Red Hair Come From?

A colleague referred me to a very interesting webpage about the origins of red hair. If you have red hair or have a friend or family member who does, you will find this page of interest.

Both my first wife and my daughter had auburn hair in their younger days. As they approached 40 their hair browned out. 

Because of their hair color, this article was of interest to me. It claims that red hair is a recessive trait and that it is only found in descendants of the R1b haplogroup. In both the cases of my ex-wife and my daughter this would hold true. My haplogroup is R1b as was the paternal line of my ex-wife. R1b is the most common male haplogroup in Western Europe--perhaps accounting for 40% of the men in that region and a much higher percentage in some parts of the British Isles. So far so good.

However, if red hair is a recessive trait, redheaded children must also inherit the gene from their mother as well. I wonder which female haplogroup(s) carry this trait. Both my ex-wife and I have inherited different versions of the female haplotype H. Again H is the most common female haplotype in Western Europe. Do other female haplotypes carry this recessive gene? If not it would take an R1b male and an H female to create a redheaded child. But perhaps others can carry this recessive gene. Someday soon we may have the answer to this question.

In the meantime could this offer some new clues to redheaded orphans?

23andMe "Flash" Sale

23andMe is reaching out for new customers using a new marketing approach. CeCe Moore who blogs as Your Genetic Genealogist offers more details. The 23andMe test is of autosomal DNA only. Therefore, it is good for exploring relationships with fairly close cousins and other close relatives. It also gives information on many health risks. However, it does not test more distant ancestors on the direct paternal (surname) or direct maternal (umbilical) lines like Y-chromosome and mitochondrial DNA do.

While 23andMe is becoming more useful for genealogical research, it's original purpose was for health related testing. Now that three companies are testing autosomal DNA, matching across company databases is challenging. You may only see matches for relatives who have tested with the same company.

To take advantage of this sale, you should use the link on CeCe's site. If you go directly to the 23andMe site you probably will not find the sale listed---at least I didn't. Apparently, 23andMe is using this marketing outlet to try to attract a wider audience than the genetic genealogists who are already aware of their services.