Showing posts with label genetic discrimination. Show all posts
Showing posts with label genetic discrimination. Show all posts

Thursday, September 27, 2007

Genetic Disease? Isn't she too Old for that?


You know, it never seems to amaze me. I received a phone call from my friend at a very solid academic training program in internal medicine. He said that he saw a patient the other day who had an unusually low Good and Bad Cholesterol, a high triglyceride level and a big liver.

While he was in morning report (This is where doctors present the patients they admit from the night before) he presented this young lady. She was a 30 something year old woman who had a cholesterol level that was off the wall. Normally a premenopausal woman would have an HDL of 50 or 60, maybe even 70. Her LDL (bad cholesterol) would be perhaps 100. If she had familial hypercholesterol levels perhaps even as high as 200. But what he found was just the opposite.

Her good cholesterol was less than 10, her bad cholesterol was 12. Why ever would she have such low cholesterol? Now this is where it gets interesting. He told the "Professors" that he was concerned his patient may have a condition called Tangier's disease, a genetic disease. What ensued was scary. All of these skilled physicians said: "A genetic disease? Isn't she much too old for that?"


Ladies and Gentlemen, this is the current state of medicine. Tangier's disease presents in the 30s and 40s with renal failure, heart attack, stroke. Why? Because it is never detected until it is too late. Even more scary is the fact that a 30 year old woman would not have an internist nor would she have ever had her cholesterol checked!!! But if you read a prior post of mine, it really should be no surprise at all.


The Sherpa Says: It is a new century, we will soon have genome sequencing for less than 1000 USD, and we are not teaching our residents properly. Why? Because the teachers were never taught. In a world where there are less than 100 geneticists trained in adult medicine how will we ever teach our future doctors? What good is you genome if your doctors think it only applies to children? Lastly, There are 7 days left to vote. How much will you pay for your genome.

Wednesday, September 5, 2007

1000 Genomes???? Coming Soon.


I have been looking at the genome of Craig Ventner. What Surprises me is that we haven't do this sooner. If you haven't heard the diploid genotype of Craig Ventner is up. And several of my buddy bloggers have posted on it. Blaine posted on it here and has a nice wrap up.


From The Canadian site The Globe and Mail


Most experts predict that routinely reading individual genomes will become a reality within five years as the technology to unravel the six billion chemical units that make up DNA gets faster and cheaper.


Kathy Siminovitch, director of genomic medicine at Toronto's Mount Sinai Hospital and the Samuel Lunenfeld Research Institute, noted that the first Human Genome Project rang in at roughly $1-billion (U.S). But with the new generation of "ultra-fast" DNA sequencing machines that have hit the market within the past two years, she said the bill is expected to drop to less than $100,000 by year's end.
The Sherpa Says: Coming soon 1000 USD genomes. Now who will read and interpret them? Even crazier....where is the evidence base behind treatment guidelines adjusted to your genome??? I can here the uneducated physicians now.But don't be scared my brethren internists. Stick with the Sherpa. We will find our way.

Friday, August 24, 2007

Loaded for Bear


Just wanted to give a shout out to David Hamilton from Venture Beat who wrote about Navigenics a while ago. To me whether 23andMe has a competitor or not does not matter. All that it sounds like is another non-clinical company trying to be clinical..........

From his article

"In other words, Navigenics essentially intends to get people to have their genomes scanned in a rough-and-ready fashion — in other words, they’ll scan your genes with chips that look for single-letter variations in the genetic code, instead of laboriously reading it out letter by letter — and then to match up what they find with the latest information on the diseases to which your genes might predispose you. Navigenics so far seems focused on the question of what your genes might say about disease, whereas 23andMe is apparently also interested in helping people trace their genealogy and creating social networks where they can compare and contrast their genetics."

And my favorite quote: "At the very least, though, it’s clear Navigenics has come loaded for bear. In addition to the blue-chip VC backing......"

The thing my mother always taught me.......the more money you need to market and sell something, the more likely it is that people don't need it........


Thoughts?????

Tuesday, July 24, 2007

WikiPedia Meets Genetics


I just received an email from one of my readers today. Trip said " am med student at Univ of KY, interested in medical genetics and have been reading your blog.........I am recommending http://www.snpedia.com/ for a blog post on the gene sherpa" Well Trip....You Asked for it, You got it..... As they say on that old Toyota commercial....


First I would like to mention that my friend Bertalan over at ScienceRoll commented on this Yesterday. He did an excellent job. Also SNPedia has their own blog although there are only 2 posts so far.....


So Single Nucleotide Polymorphisms (SNPs) are little genetic changes, much like letters in a word. There is some data out there which shows taht when readign a senetnce letters in the middle of a word do not alter the readers undertsanding. This could be the case for a SNP, it may result in no change in the protein function. Or it could be the case that a SNP may change the word altogether.

Even crazier is when a SNP isn't even in the coding region of a protein. This may affect a protein as well. When we make mRNA there is a process called splicing. This splicing could be altered by a SNP located in an intron (noncoding region of a gene) or it could be located in an another gene and affect the protein by epistasis........

Listen, this is all confusing. Much like SNPs are...... It reminds me of other "genetic markers" like HLA haplotypes. No one knows what role HLA B27 has in ankylosing spondylitis....it is just linked to an increased likelihood of having the disease.

So what about SNPedia. This is a catchy idea. There exist several databases out there including OMIM. However, the more databases, the better. If we can cross reference these for validity it certainly would be nice.


In reviewing SNPedia I performed searches on several SNPs including in TCF7L2 and CCR5. The database has listed some but not all of the associations within each of these "genes" in fact CCR5 is not only an HIV associated gene, it is also implicated in abdominal aneurysms.


The Sherpa Says:
Any database is only as good as the data in the base. I feel that opening it up to public contribution through wiki is a great idea. However, we must assure the public that SNPedia will be monitored by a knowledgeable set of curators.

Sunday, May 20, 2007

Weekend of Firsts


Today at ScienceRoll Bertalan Mesko gives me my first Blogterview. This follows hosting my first Gene Genie Carnival

I am very excited to have joined the ranks of those who he has
interviewed.


Personalized medicine is a passion for me. The true dream is to not have to call it personalized medicine or personalized genomics. The real name should be Medicine.


I put this cartoon here because it represents the "part-time" work I do for my blog, my training, and lastly my new medical practice. Let me tell you about what is so revolutionary at Helix Health of Connecticut (sorry, I am waiting to release the website).



  1. We follow you for life (Something clinical geneticists rarely do). This is necessary given the rapid changes in genomic discovery. Your risks change as we learn more.

  2. We are available for consultation anywhere you are (I can't share how). Just Call 1-914-954-6406. Soon we will have online booking :)

  3. We put Geneticists together with Internists, OB/Gyns, Genomic Counselors and Pediatricians (when needed) to make care plans one patient at a time. We go over them with the patient to make sure they understand the plan. More importantly, we frequently "check-in"

All of these things require web 2.0, and I am a huge supporter of technology in medicine.

The Gene Sherpa Says: This blog post says it all. Personalized Medicine is US.

Wednesday, May 16, 2007

This week in NEJM


This week Kathy Hudson Ph.D. opines on the difficulty of prohibiting genetic discrimination, detailing the hurdles that this legislation has had. If you have been asleep at the wheel, HR 493 passed the house 420-3.


This article also points out the huge loopholes in the Health Insurance Portability and Accountability Act, including its lack of addressing genetic information for underwriting purposes. Currently 35 states have some limited form of discrimination in employment, 47 with health insurance, leading to an inconsistent approach to prevention of discrimination. The states' legislation are swiss cheese like and difficult to apply. For example, some laws exclude genetic tests from "routine lab tests". Given that many genetic tests are "routine" these laws are now outdated and do not apply.


I would like to take a closer look at this proposed legislation now.


First what the legislation does:




  1. Prohibits group and individual insurers for using genetic info in setting premium or contribution amounts


  2. Prohibits insurers from requesting/requiring a patient undergo a genetic test


  3. Prohibits employers from using genetic information to make employment decisions


  4. Prohibits employers from requesting genetic information about an employee or their family


What it does not do:





  1. Does Not prohibit medical underwriting based on CURRENT health status


  2. Does Not mandate coverage for any genetic tests or treatments


  3. Does Not interfere with a physicians ability to request a patient or their family members undergo genetic testing


  4. Does Not create special remedies for employers other than those outlined in the Americans with Disabilities Act


  5. Does Not prohibit workplace collection of genetic information for genetic monitoring programs such as wellness programs, state and federal medical leave programs, and in cases of inadvertant acquisition of this information, But Does prevent the employer from disclosing or using this information.


The Gene Sherpa says: The bill has passed one Senate subcommittee and now sits poised to become law by the fall. I for one am very excited about the possibilities this legislation brings.