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.

Weekend Off, But Genetics Never Rests.

I took the weekend off from posting because I was in the hospital 3 days in a row. It is truly amazing how little you know when you start internship. I am frankly amazed that there aren't more problems during July. The statisticians must have been crazy.

Rule number 1-Don't get elective care in July
Rule number 2-Don't go to a training hospital in July
Rule number 3-Always ask about the medications a nurse gives you

Enough public service.....Back to genomics and personalized medicine.
I was sent an email the other day from a company called Genelex. You may have heard of them. They have been offering pharmacogenomic testing since 2000. Yes that is correct. I thought we should take the time to review what this company offers.

The first tool is called GeneMedRx.
According to the site : GeneMedRx is the first software tool available to prescribers that predicts drug-drug interaction risk based on both cytochrome P450 metabolism and genetic testing. This allows for enhanced understanding of metabolism-based adverse drug interactions or lack of efficacy.

I would say that after reviewing this tool it is a very good resource that should be considered. In addition, a company such as Revolution Health or even an EMR would be smart to snap up a tool such as this. It has over 2000 drugs and metabolites as well as significant links to PubMed. For a demo.

I will continue to review this company throughout the week. They have some very useful and some debatable services as well.

The Sherpa Says: Sorry for the weekend off. I know.........But like C3PO says "Please don't deactivate me" There is alot going on this week and I hope to cover it all. Keep Climbing.

Harvard Honoring the Sherpa!

Today I was asked to be on the faculty of Harvard's famous Continuing Medical Education conference in the Genetic Basis of Adult Disease. I am extremely honored to be a part of this distinguished faculty. This year's conference will be held October 12-14th. The last conference topics and website are still up and I am certain the new one will be shortly. I highly recommend it for all physicians looking to become Sherpas or at least to stay up with the breakneck pace of genetic discovery in medicine. Several topics include:

• Genetic Causes of Heart Failure
• Genetics of Lipid Disorders
• Genetics of Cardiovascular Disease
• Genetics of Common Psychiatric Diagnoses
• Genetics, Lung Cancer and Treatment Responses
• Genetics of Gastro-Intestinal Diseases
• Barriers to the collection and use of the Family Health History in Primary Care

So who should attend this great conference?

Internal Medicine Docs
Family Physicians
Genetic Counselors
Registered Nurses
Nurse Practitioners
Physician Assistants

I was at the conference last year and am excited to be behind the podium this year. Please mark your calendars!!!!

Mammography at 40

Recently the American College of Physicians (The Organization of Internal Medicine/ACP) released guidelines regarding mammography at 40 years of age. Until now the ACP guidelines were everyone 40 and over gets mammography. There is very little good literature that supports this previous recommendation, yet the American Cancer Society, ASCO, and ACOG still recommend that every woman 40 and above gets a mammo every 1-2 years. The ACP found that in their analysis the conclusion was "Although few women 50 years of age or older have risks from mammography that outweigh the benefits, the evidence suggests that more women 40 to 49 years of age have such risks." After reading the study and looking at the guidelines, they are not that drastic. Key Point Include

• Women 40-49 should have routine risk assessments for breast cancer risk. What is increased risk?
• 2 first degree relatives with breast cancer
• One with breast cancer and a previous breast biopsy(the patient)
• Previous breast cancer
• Previous noncancerous breast gland changes(DCIS, atypical hyperplasia)
• Prior chest irradiation (for cancers/not for a chest xray)
• BRCA1 or 2 mutations or family members with these mutations
• Physicians should inform these 40-49 year old women of the risks and benefits of mammography. What are the risks?
• False positive results (never shown to cause psychiatric problems:anxiety, depression etc.)
• Radiation exposure
• False reassurance from missed tumor
• Clinicians should base their screening mammography decisions on the woman's preference and risk profile.

The Gene Sherpa says: If you are younger than 50 mammography should be a collaborative choice between the physician and the patient. The problem?....When has a physician used a risk assessment tool to evaluate a patient for breast cancer? Sure cancer geneticists do this. But Internists? Sounds like we need some education for the internist, and for the patient. Would you get the mammogram?

Gene Doping in Athletes

This week in EMBO reports (European Molecular Biology Organization) the dreaded issue of gene doping rears its ugly head. Normally I only report on genetics pertinent to your health. However this raises special interest for me. I was a college athlete and am fascinated by the extremes to which we would go to shave off that 0.5 second. This article raises significant questions about using gene therapy to enhance performance. Where will we stop, what line will be drawn? Gene therapy to cure disease....Why isn't weakness a disease? What about poor vision? We allow athletes to have LASIK, why not gene therapy? The danger is gene overdose. Once introduced into the body we have very poor mechanisms to control expression. But for that extra 0.5 seconds is it worth it? What about for those extra 200 points on the SAT?

The natural extension for these test yourself companies is now treat yourself. Are you a 100lb weakling? What about being predisposed to obesity? Treat yourself. Would you?

Personalized Medicine is coming

I am back! What a fun week in San Diego. I was at a conference for Program Directors (Responsible for training resident physicians) in Internal Medicine. During my absence a few things have come up. But first I want to talk about the conference and how almost all program directors acknowledged that they do not teach genetics in their curriculum. Moreover, several expressed interest in our curriculum. I am so excited that these teachers are now realizing the power of genomic medicine.
That being said.....Appropriate use of the genome brings great results. Misuse and blatant promotion such as that done by a direct to consumer testing center in San Francisco (I will not say their name) will only lead to sullying of the geneticists' reputations.
On Genetics and Health there is a post which lead me to a website that was promoting risk factor testing for diabetes. Like any other path I will lead you through, there is good, bad, and unknown. First the good.
Diabetes is an awful disease and the longer it is untreated the worse the outcomes. So naturally I am excited about being able to diagnose it quicker. BUT this test does not diagnose, it only shows increased risk.
Here comes the bad.
In fact, the risk of carrying this gene polymorphism is not even half as much as having a sibling with Type 2 diabetes. Why would a company promote this test rather than promote taking a family history? The answer is simple, because they make MONEY off the test or interpretation and not off taking a family history and counseling in person. I have no respect for that. In fact, people will be amazed to know that this company makes all of its profit from marking up test costs or non face to face services, and serving as an "educational" resource. What education leaves out that the best screening test for hemochromatosis is iron studies? Shame on them.
Lastly, the unknown.
Now that I know this risk, how do I use it clinically. There is no study showing that metformin or a PPAR gamma here will prevent the onset of diabetes in this risk group. What I am saying is....before we go down this road 3 things need to be done

1. A 3 generation family history
2. Research on prevention in this high risk group
3. Companies looking to make a quick buck off of you on testing without clinical utility need to be punished. Or at least I can lead you away from that confusing and dangerous path.

If you do wish to do in home testing without the help of a TRAINED genetic specialist who examines you and takes a full family history, then you risk the difficulty of test interpretation, appropriate follow up, and possibly improper care as a result. I hope you choose wisely.