New Family History tool to Debut

It's as if everyone in the technology land had been hearing my cries!

"Family history is the cheapest and the best whole genome scan we have!!"

The Government fixed theirs others are working on it as well.......

With the potential in ancestry companies to turn their tools into family history gathering machines we are now seeing a big shift in focus from merely ancestry to ancestry AND medical history. One great tool that is coming comes from a website called ItRunsInMyFamily.com

And like every self respecting entrepreneur looking to boost SEO, they have started a blog.

But what's even better, they beat me to the punch when comparing genetic testing versus family history...

They pit them head to head.....

From the blog:

Breadth of Diseases
Over 6,000 known single-gene disorders. (This does not include multi-factorial diseases) “Every human disease has a genetic component.”

Family History: Can track an unlimited number of diseases. Any disease that has an inherited or genetic component can be listed on a family health history.

Genetic Tests: ~1,000 clinically relevant genetic tests available today. Most are for single-gene disorders, few adequate genetic tests are available for multi-factorial diseases. Direct-to-consumer (DTC) genetic testing services (# of diseases): 23andMe (26), deCODEme (35), Navigenics (23), Myriad BRCA (2).

ADVANTAGE: Family History

The result?

You'll just have to read their post!

The Sherpa Says: with all of these fly by night and limited clinical utility genotech companies out there, it is sure nice to see someone with good business AND Clinical sense!!!

God Bless Michael Crichton, Here Comes Google.

I want to take today and Sunday to reflect on the vision of a fantastic writer a true futurist and a wonderful physician. His Name is Michael Crichton MD. Yes true, he did write some fantastic books....but in each of them a true moral being told......


Just because we can do something, doesn't mean we should.....Even more importantly his stories revolved around those who make great discoveries and how they become corrupted by fame and avarice.


His words are most important in an age when everything is "Science" I actually see Michael reminding us of how we can't let, false science be pushed forward as truth. Never more is this evident than in the "Best Invention of 2008"


Today the Wall Street Journal agrees with my point.


You see, I have mentioned Dr Crichton several times in the past.....a Graduate of Harvard Medical School and a lover of science and medicine, he is quite a role model. From the WSJ...


A medical doctor by training, Crichton knew better than to treat scientists and technologists as a priestly class, immune from temptations of fame, profit or power........As a result, Crichton was sometimes accused of being a Luddite. In fact, he was a champion of good science, and never more so than in a 2003 lecture at Caltech, hilariously titled "Aliens Cause Global Warming."


I too have heard those words about my blog and my ideas. It is the unreasonable man who challenges "conventional wisdom" upon whom the world depends for change. Bad Science is no replacement for Lack of Truth....we must be very careful as we push forward advancing healthcare with technology and "science" We must be very sure that if we are to put something forward for patients that the benefits clearly outweigh the risks......And if we are to have no chance of healing we at least Do No Harm....


That was Dr Crichton's message. I am so very sad to see him pass......his 26 novels and numerous screenplays will be a forever reminder of how


"As the 20th century drew to a close," he warned, "the connection between hard scientific fact and public policy became increasingly elastic. In part this was possible because of the complacency of the scientific profession; in part because of the lack of good science education among the public; in part because of the rise of specialized advocacy groups which have been enormously effective in getting publicity and shaping policy; and in great part because of the decline of the media as an independent assessor of fact."



This is why I formed HelixGene with Drew Y, This is why we started Helix Health of Connecticut, This is why we volunteer to teach Genetics to High School Students, This is why we always have to remember that "Bad Science is no replacement for absence of evidence"


I see the storm clouds rising, people looking to make healthcare efficient, people who didn't study the biological sciences....instead they chose computer science.....I just hope and pray we can demonstrate that science can be just as bad as poor programming.......


Need further proof they are coming? From the WSJ....Bret Swanson


On health care, let's face facts. We are not going to "solve" the entitlements crisis by gouging American producers to pay for the current Medicare/Medicaid abomination. Much better to transcend the issue with medical innovations and an entrepreneurial, consumer-driven market where more physicians go into medical technology, more nurses replace doctors, more technologies replace doctor visits, and, with properly-aligned incentives and real prices, more citizens take better care of their own health and thus their pocket books. The only way to escape current predictions of scarcity is the unforeseen abundance that entrepreneurship can bring


The Sherpa Says: Technology is not Science...it is not even bad science......it just is....and when you pair that with Bad Science....well, then you have some problems.......Oh Michael we need you now more than ever......

500 Hospitals want to know....

Lots of stuff happening online today. I just left a conference call where I was the invited guest panelist along with Robert Resta CGC. The Advisory Board Company and The Innovations Center presented an Issue Brief entitled-The Genetic Testing Frontier: Impact on Clinical Care, Market Opportunities. Hundreds of hospitals were online wondering how they too can get a piece of the action.....

Also....did anyone read the Washington Post today? Genetic Testing Gets Personal again another article on this "revolution" non subscription link here

"We call it consumer-enabled research," said Linda Avey, co-founder of 23andMe, based in Mountain View, Calif. "It's about changing the paradigm of how research is done."

Well Said.......You could also call it uninformed cohort analysis...."Free Kits?" Come-On....nothing is free. Davos, you sold your DNA for some fancy flash animation and trinkets....I am guessing the Belmont Report is not required reading in MBA schools...Hey guys don't worry, here are the Cliff Notes

The Belmont Report explains the unifying ethical principles that form the basis for the National Commission’s topic-specific reports and the regulations that incorporate its recommendations.

The three fundamental ethical principles for using any human subjects for research are:

(1) respect for persons: protecting the autonomy of all people and treating them with courtesy and respect and allowing for informed consent;

(2) beneficence: maximizing benefits for the research project while minimizing risks to the research subjects; and

(3) justice: ensuring reasonable, non-exploitative, and well-considered procedures are administered fairly (the fair distribution of costs and benefits.)

These principles remain the basis for the HHS human subject protection regulations.

Paradigm of how research is done???? Isn't that why we developed IRBs? To protect from those who want to change the paradigm and injure the patients? IMHO these companies need to immediately develop research protocols and IRBs. End of story....nothing less. The consumer should be allowed to at least ask questions to another person.

It can be entertaining, Venter said, to learn one has a gene for soggy earwax. "But if you're on the receiving end of one of these tests and are told your probability of having a serious problem is 62 percent, what the hell does that mean?"

And that is assuming the results are correct. As it turns out, many gene tests today search for DNA patterns that have been linked to a disease or trait in only one or two studies. Such findings are often overturned by later research.

Enter the trained professional.....This is precisely why we need more Sherpas!!!

Dr Venter is completely correct....the brick and mortar where professionals exist is the transition point. Even 500 hospitals online today acknowledged that. Now where do we get these individuals?

Exacerbating the problem is that virtually no one is watching over the industry. The Food and Drug Administration does not regulate most gene-based tests, and there is no federal proficiency-testing system for companies offering them.

Enter the SACGHS and EGAPP...2 organizations devoted to helping best practices....In addition, the ICOB at the Delaware Valley Personalize Medicine Project will also help shape this future.

"It creates an air of charlatanism that doesn't help the field," Venter said.
All told, concluded a study in this month's issue of the American Journal of Human Genetics, "There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention."

That is my number one concern. Here's why...geneticists and genetic counselors require referrals from physicians who don't speak genetics, but watch the national news and read the New York Times...If they link Medical Geneticists with Scientific Match.....There Ain't no way in hell any self-respecting, butt-covering, good physician will refer patients to such "Qwacks" simply due because of the confusion. All press is good press? Don't think so...especially when the NEJM posts such a confusing article failing to clarify the difference.

"I very much worry that all this emphasis on a 'gene for this' and 'gene for that' raises the risk that people will conclude that that's the whole story," Collins said. Instead of empowering people to make healthful changes in their lives, that could simply make them "more fatalistic," he said, "in which case, what's the point?"

Me too Francis...Me Too....

The Sherpa Says:

To climb the mountain we need unreasonable people that won't quit....Corporate and Academic can exist together...provided they do the right thing. Do it yourself surgery is probably just as "Revolutionary" so why isn't anyone on that money train? BTW the pic is of do it yourself LASIK.....I bet that is a best seller.

Vineyards and Longevity?

A friend of mine told me that she was on a wine tour and went to a Vineyard called Chamard. While there she was given a brochure.....The brochure contained information regarding the Methusaleh Project. It turns out that the vineyard was recently bought by Dr Rothberg.

I found this an interesting place to recruit for the study. True, the elderly have imbibed, and those visiting vineyards often are retired. So perhaps this is an adequate place for sampling.

I just wanted to mention the Methusaleh project again. Personally I think this is an intriguing idea. I have examined Nir Barzilai's project as well.

Imagine...go to a vineyard, get a cheek swab.

Sherpa Posts Total 100!!!!

No I am not nearly as prolific as some of my contemporaries, but hey I have only been at this since March ;)

I hit the milestone of my 100th post today. In my championing, flaming, arguing, almost getting sued (Thanks San Fran!), and just plain out bashing quacks I have discovered some amazing people and some amazing sites. The following is a running tally of blogs I love. Some genetic, Some medicine, Some not so much.

• Scienceroll by Bertalan Mesko soon to be MD



• Bad Science by Ben Goldacre MD



• Eye on DNA by Hsien Lei PhD



• Highlight Health by Walter Jessen PhD



• Revolution Health's CMO Jeff Gruen MD



• The DNA Network and its littany of great blogs!



• Mashable the blog for social networks



• Buddhist thought by James Ray



• The Entrepreneurial MD



• Great Pics from around the World at Cosmos



• The latest and greatest at Science Friday



• The Wall Street Journal's Health Blog



• Wired's Science Blog



• NPR's On The Media
  

I know that this only 14 blogs but each is worth its weight in gold. It is Thursday and July so forgive me but I have to deal with some new interns :)

The Sherpa Says: Thanks to all of you. I look forward to the announcement when I hit 500 posts! Let's keep our eyes open and realize that there are a whole lotta people out there trying to oversell genetic tests. Or even worse. Knowledge is just a set of unorganized facts. Wisdom is knowing where to find the answer. I will strive to give you that answer or at least have the wisdom to find it.

Why Watson Didn't Want His ApoE4 Results.

Alzheimer's disease (AD) afflicts about 10% of persons over 65 and almost half of those over 85.

When Jim Watson had his genome sequenced he asked not to have his ApoE4 status revealed. Why??

Dr Watson did not want to know his genotype status because although twin studies suggest that there are several susceptibility genes which, along with the APOE 4 allele, contribute to up to 80% of LOAD (Late Onset Alzheimer's Disease) cases, the story is nowhere near being finished. Not everyone with APOE4 gets Alzheimer's. In fact, the majority do not......

But the picture for those predisposed is getting clearer.

This last week a study was released by the team at TGen (Translational Genomics) in the journal Neuron. According to the study:

"...suggests that the gene - called GAB2 - modifies an individual's risk when associated with other genes, including APOE4. The study results appear in the June 7 issue of the prestigious peer-reviewed journal, Neuron."

"The team screened the DNA from 1,400 individuals who had been clinically assessed with Alzheimer's prior death, and simultaneously examined more than 500,000 SNPs or genetic variations to characterize and confirm additional LOAD susceptibility genes. The search revealed GAB2."

The polymoprhism is known as SNP rs2373115 . It interacts with APO epsilon 4 to prevent neurofibrillary tangles. This protein is over expressed normally in APOE4 afflicted brain cells.

So what does this mean? GAB2 normally acts like your mother. Remember when you made a mess of your room? If you were lucky, your mother cleaned up the mess. You kept making more of a mess and she kept cleaning up. If your mother didn't clean up, then your room was a constant mess. Even worse, you couldn't find anything in your room that you needed. Much like the way an Alzheimers patient can't find their memories.

In the end a Non-cleaning mother and a really messy kid led to a very dirty room. Just like the combination of GAB2's SNP and APOE4 lead to an odds risk of 4.06 a 400% increased risk.

The Sherpa Says: I agree with Jim. ApoE4 testing can often be uninformative with only 25% of those with the gene polymorphisms going on to get Alzheimers. I think family history will have to lead the way. At least until we have a GAB2/ApoE-4/new gene panel that puts together the picture much more clearly.

Watson, Francis.....and The SHERPA!!!!!

Remember how I said that June is going to be one heck of a ride? Well, what a way to kick it off. Yesterday I attended the "Personalized Medicine Revolution" at Brown University. My team drove 3 hours from NYC to Rhode Island to attend and trust me....It was worth it. I want to recap in some coherent and readable fashion so I will break it into 3 posts throughout the day.

Post 1 The Welcoming Remarks by Dean of Brown Medical School Eli Adashi and Rep. Patrick Kennedy.

I find it interesting that the introductory remarks are given by an REI specialist. Especially after what was disclosed to me.

"Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........"

In addition, the lack of REI oversight in this country was addressed by Dr Thomas Murray PhD CEO of the Hastings Center . But I will save that for a later post. Dr Adashi did make a funny though. He showed a slide of Jim Watson receiving a copy of his genome on CD from Jonathan Rothberg. Dr Adashi said "I am happy to say I just received my copy from Netflix!" to the laughter of the crowd. Lastly he closed with a comparison many of us make. "Just like the microbiology revolution...........Genome based medicine is inevitable and It's here today."

Still, the welcome was warm and the stage was set for an exciting day of "Personalized Medicine!"

The next comments came from the sponsor of the conference, US Representative Patrick Kennedy. First I would like to say I have no political attachment to either party so what follows is merely my observations as a citizen of the United States.

At first it was difficult to understand his accent. Second it was tough to listen to his ummmms and uhhhhs. Thirdly he had a tendency to say "you know". But once I got past the "nerves/Billy Madison-isms" what he had to say was pretty amazing. Representative Kennedy is a huge ally in the fight for the right drug, for the right person, at the right dose. He went on to detail how proud of Rhode Island he was, he talked about his mental health initiatives and how personalized medicine will help those with mental illness. Frankly, I was very impressed with what support and knowledge came from his mouth.

Next post............Francis Collins and "Reports from the Front Lines of the Revolution!!!"

The Sherpa Says: Viva La Revolucion!

So Whaddya Think? Rick from My Biotech Life put together this little guy. He seems motivated, excited and ready to hit the trail. But I need to know....Should he stay or should he go? Oh and about this weekend's posts regarding "major breast cancer genes" The media seems to think they are the best thing since BRCAs.

The Sherpa Says: Hogwash. Those genes have so little penetrance that a family history will tell you more. And to Hsien and EyeOnDNA, if you don't have a family history, then an environmental history will indicate even more risk than these genes. One things for sure, I am glad I don't live in Canada. But as for the Diet Coke....I threw mine out yesterday :)

BRCA2 not just for adults!

St Jude has released some pretty amazing findings. Today is no different. The researchers there have implicated the BRCA2 (the gene, not the mutations) in the development of the brain. The study found that BRCA2 triggers the repair of damaged DNA from cellular replication in nerve cells. This effect was also found to suppress the development of Medulloblastomas. These tumors account for 1/5th of childhood brain tumors. When BRCA2 function is impaired (as is the case in breast and ovarian cancers) the mice studied developed medulloblastomas.

The Gene Sherpa Says: The jury's still out. It makes sense to me that this gene is involved in medulloblastoma. Especially because this gene is involved in Fanconi Anemia, which can present with brain abnormalities. However I caution the excitement...What prophylaxis is there for medulloblastoma? Brain-Ectomy(removal)?

Gene Genie for 19 May 2007

In honor of my first Gene Genie

"It's a hundred times faster than the best serial supercomputer. It's a billion times more energy efficient. It's a trillion times denser than the best storage media. It's a teaspoonful of DNA that's a computer! And Leonard Adleman invented it."

Where is this supercomputer? Well, a group of Israeli scientists in 2004 published in Nature they had perfected the same thing where a DNA computer could detect cancer changes in cells and release a chemotherapy when positive.

Such is the same for our new "genomic revolution" Where will we be in 12 years?

This revolution is mentioned by The good folks at DNA Direct where they post twice on the subject The issue is clear, not enough trained specialist in genetics. But the question remains, is the 24th medical specialty really only restricted to metabolic diseases, developmental delay, and prenatal testing? I don't think so.......

Still we must never forget the roots of genetics. I am all too aware of the struggle people with metabolic diseases go through every day. We hear about this at Fight Pompe I am not surprised by the struggle to keep up with costs of this horrible disease.

Want to learn more about storage disease? Take a look at Sandwalk where we get 9 for the price of 1

Hsien Lei at Eye on DNA commented on the topic as well . She thinks we all can just get along. I say yes, patients and providers should get along. But patients and lab reps, just like pharmaceutical reps need to play nice too. Most of the time ;)

She also mentions the ugly side of testing at the Trinidadian Police Service where " lie detector tests would generate greater opposition than DNA testing" True, no lie :)

Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........

Highlight Health reminds us that the beat moves on. The post quotes George Weinstock as saying 2007 is the year of Personalized Genomics. The full article can be found on the post. The Sherpa agrees. This year IS the year of the personal genome, from ARCHON to ILLUMINA we are moving there very quickly. I agree, that is why 2007 is the year I have launched the first personalized medicine clinic in the Greater New York City area.....soon to come out West.

Controlling our gene expression is important, and the sooner we figure out how to do it effectively we will start to see some "cures" for disease. Biosingularity points out a study working on the master PPAR, PPAR delta. We already have drugs for PPAR alpha and gamma. I used one just the other day to "cure" a woman's anti psychotic induced metabolic syndrome. Now that's effective use of your OWN DNA!

We too must remember we ARE what we eat. Our DNA is modified my our foods every day. The Agouti/Choline mouse study told us our food might also be affecting our offspring's' genes too. Scientific Blogging posts a study which is in concordance with that.

With all the debate surrounding the "utility" of web 2.0 pedias. Evolgen asks "Is scientific outreach good if facts are wrong" Something I question every day when I read the lay press regarding discovery.

These facts are often misunderstood and that's the problem. Even more likely, is what Rummy says. There are things "we know we know", things "we don't know we know", things we know we don't know" and lastly "things we don't know we don't know"

I can think of two big ones blown up over the last 2 years. The dual role of fibrillin in Marfan's disease, and Copy number variation. These two posts at Genomicron bring up that interesting content. The ideas are transmitted through road-kill.....uh I mean the opossum.

What's the solution to all this confusion? Well, at sites like Genetic Genealogists Ask the Geneticist we have some answers. More likely this type of site will bring up collaboration and communication.

That's why Rick Vidal has done a great thing by linking us together at the DNA Network

We will be able to debate, educate, and connect. That's what's amazing....

Let's flash back to 1995 and see what they say............

"By forcing the connection between computers and life, Adleman is making us rethink the meaning of both. Clearly, we have a lot of figuring left to do - but we also have new means for doing it."

Wired got it right. We do have a lot of figuring left to do and we do have a new means for doing it. Web 3.0, Medicine 2.0, and the people of the world.

Thanks for letting me host. The next Genie will be at Eye on Dna

Direct To Physician Testing... Myriad re-enters the fray.

According to my insider sources it appears that Myriad is going to launch a Direct To Consumer testing campaign for Hereditary Breast and Ovarian Cancers. Their quote is:

• "Because 1 out of 10 patients in your practice may be at risk for hereditary breast or ovarian cancer....Help Turn the Tide"
  

What happened the last time they campaigned? Demand for counseling went up 244% In addition there is a significant amount of literature that indicates the number one reason a "non-geneticist" orders a genetic test is patient request.

There are several ethical issues that need to be addressed with direct to consumer testing.

• A number of these tests lack data on their accuracy and reliability, making interpretation of results difficult.
• DTC genetic testing is undertaken outside the context of the physician-patient relationship and may lack appropriate individual and family genetic counseling,
• This often is leaving the consumer vulnerable to potential harms, such as misinterpretation of results, including false positive or false reassurance, with limited or no benefits

There are several solutions to these problems. None of which should exclude a trained health professional. Remember what I said before "beware the doctor peddling genetic tests"

The Gene Sherpa says: New York in October, the Avon Breast walk, Myriad and its DTC brokers will make some serious cash. Please make sure it is not at YOUR expense. Get the right follow up, get the continuity of care, and BEWARE NON-GENETICISTS SELLING GENETIC TESTS!

Chronic Hepatitis C and Depression

The goal of personalized medicine is to

1. Apply prevention strategies to those uniquely at risk for disease
2. Give therapies that are uniquely suited for a molecular cause of disease
3. Avoid therapies that would not be useful and in fact may be harmful to those being treated

I am certain there are other goals, but I think these are the over-riding themes.

In a study in the journal Gastroenterology we see another example of how principle 3 comes into play.

This study examined patients with Hepatitis C. The therapy for Hepatitis C includes Interferon. This medication has long been known to cause depressive symptoms in a subset of patients who take this therapy. The study found that those patients who had a polymorphism in the HTR1A gene (aka serotonin receptor 1A) were almost 3 fold more likely to have interferon induced depression. Imagine combining this with the likelihood for cirrhosis polymorphism I mentioned in April. I can see it coming together, the right drug or not, for the right person, and the right disease.

The only catch is that these results need replication in a larger population.

Stay tuned

Hsien-Hsien Lei

Just a brief post today to tell you that there is an excellent blog being started by Hsien Lei PhD. She has been at the helm of a highly successful genetics blog called Genetics and Health. She is now posting on her new blog Eye on DNA
I am looking forward to this new start. We all wish her the best.
On a not so light note, I have been embroiled in a hot debate with Lisa Lee from a direct to consumer company. She has been extolling the benefits of predisposition testing for TCF7L2. When I posted this she had no response:
From Genetics and Health

"Last one I promise.The TCF7L2 is involved in signalling and may very well represent what we
call a developmental predisposition. The family of proteins it plays a role in is Wnt signalling. This is involved in the development of the gut. It is fishy to raise the possibility without mentioning that the damage could have already been done in utero. Similar predisposition may be involved with COPD (emphysema).

From NEJM Volume 355:306-308 July 20, 2006 Number 3“Does this new genetic information have any practical health implications? At first glance, TCF7L2 is not the most attractive of drug targets, since it is closely involved in fundamental developmental processes. The main effect of the high-risk single-nucleotide polymorphisms in relation to diabetes may be developmental and may not be amenable to therapeutic manipulation in the adult patient.”

Do you see how confusing the data is? I sure do.The jury’s still out.
At least in my mind.
-Steve

Heart Risk Genes in Question

In the April 11th issue of JAMA Tom Morgan and Rick Lifton report a large "Replication" Study intended to identify at risk polymorphisms. I remember Tom running all over Yale collecting samples while I was a medical student rotating through genetics there. Personally I am surprised that the press did not jump all over this study. They evaluated 85 previously studied markers and found absolutely none were linked to increased risk of heart attack.
However family history of MI was higher in cases than controls, the racial subtype was Caucasian, the study identified each gene polymorphism individually. What this alerts me to is the shortcoming of candidate gene analysis (looking for genes based on mechanism of disease process). More importantly it puts an ALERT out that testing for MI predisposition is not ready for prime time quite yet, at least in a pan screening form. Perhaps nuanced testing in specific groups like ALOX5AP in Icelandic and Scottish patients will be the best way to stratify care.
The Gene Sherpa says- Hold on to testing for MI for now. Subgroup analysis will need to be done....again. Soon we will have whole genome analysis of risk genes and that will help solve this mystery. I hope Tom is doing well at Wash U St Louis. If anyone sees him tell him Steve Murphy says hi.

More on colon cancer.

While preparing to give a lecture on colon cancer for my curriculum study I came across another piece of evidence that should give most patients pause. I hope my readers take this to heart and begin assembling their own family histories. This week in the Journal of General Internal Medicine there is an article surveying patients about their experiences and screening offered for colon cancer prevention. The first survey identified patients with a family history of colon cancer and the second survey evaluated the care they received by their internist. The care was given at a Harvard affiliate! Here's what they found:

1. Only 39% of patients under 50 were asked about family history
2. Only 45% of patients with a significant family history had been screened appropriately
3. Only 46% of patients knew that family history of colon cancer can indicate a need for earlier cancer screening!

These averages might be good in baseball, but we are talking about human life here!

I am sure that with the database options in these new electronic medical records we will see more of our shortcomings. Especially when it comes to genetic care. That is if tracking family history is an option for an EMR. Most programs have woefully inadequate genetic options.

Here's what I will tell these young doctors: You better ask for family history, because the patient will not tell you they are at risk!

Here's what I will tell you: Please take your family's history and give it to the doctor, because they likely won't ask! More importantly, educate yourself about screening at the United States Preventative Services Task Force(USPSTF)

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.

Beware doctors bearing genetic tests!!!!

Today I am back on the soap box.
But I will also give a little worthwhile and scary data as well.
Yesterday I was at a cocktail party for the physicians in my upscale new england/new york town. I was speaking with an "educated" gastroenterologist. In fact this physician has been in practice for 29 years, went to medical school at Cornell, and is now part of a large practice in suburban NY. He told me that some "lab reps" from Myriad were now going to offices of Gastroenterology, Hematology/Oncology, and Primary Care physicians extolling the benefits of genetic testing for cancer predisposition. This physician said that because of this they are now testing younger patients for Hereditary Non-polyposis Colon Cancer/Lynch Syndrome
He went on to talk about a 37 year old woman who had early polyps, was tested, and was positive for a mutation in a DNA repair gene called MLH1. I told him that was great. Then I asked him who he uses for genetic counseling. His eyes glazed over, seeming not to understand the question. Slowly as if to save himself he said "What does she need that for? She's not having any kids." OMG, I almost lost it. Slowly I said "If you fail to counsel a positive test result, you will get sued." Then his eyes lit up "I better go tell her to get counseling" he said.

• Beware non-genetic doctors bearing genetic tests. 1 in 3 misinterpret tests for colon cancer.
• GI doctors maybe more likely to elicit cancer history in the family, but are less likely to notify AT RISK family or even let the patient know family is at risk
• In my education study that I will be presenting at the Association of Program Directors in Internal Medicine in San Diego I found some scary things as well.
• Residents in academic and community programs consistently fail genetics knowledge exams
• The confidence of an Internal Medicine resident physician in performing family histories is inversely proportional to their performance on knowledge exams!
• Physicians in practice now are even worse than the training physicians today
• But the scary thing is, the ones who have the confidence to DO genetics, actually have no knowledge in how to do it correctly.....That's why we need gene sherpas.

Skip the ritalin, get a genotype!!

This week in the American Journal of Psychiatry there is a study which links a specific haplotype(a few changes in the same copy of a gene) to ADHD onset. It is a confirmatory study(which is needed to draw any conclusions). The gene in question is the dopamine transporter DAT1. There has always been a familial risk of ADHD with identical twins being 70-90% likely to have the disease if their twin is afflicted. So naturally we have thought that this disease is primarily genetic. However, until lately the data did not indicate a significant role in DAT1 changes. But this literature is not very strong. Now there is a significant study, but this too needs some further investigation. Do I go out and get my kid tested for DAT1 polymorphisms? No. Does it give us hope for early identification of ADHD and other therapies besides a stimulant that stunts growth? You bet it does. Are there other ways to get ADHD without this gene change? You bet there are. That being said......
If there is a test and it is useful I will be the first to let you know.
Would you take the test?

The Human Variome Project

Genes are like shoes, we each have a pair. Or in some instances (Homage to Imelda Marcos) several pair. As is the case with copy number variation(CNV). Let me explain, sometimes we have more than one pair of the same gene. It is a tough concept to get, primarily thanks to our "friend" The Monk. This is even more important than the idea of single nucleotide polymorphisms (SNPs). Simply put, with SNPs we differed approximately .1% millions of base pairs. Still there had to be more to the variation in humankind, and that's where CNVs come into play. This may lead to dosage effects of a certain protein or two. But how many copies does the average person have of each gene? Perhaps this will be discovered in the variome. The Wha?

The lead article in Nature Genetics this month describes the Human Variome Project. Much like the Human Genome Project, it will be a collaborative work. Much like the HGP, it will be another jumping off point for disease discovery and prevention. The project describes itself as " A global initiative that will catalogue all human gene variations – and will make that information freely available to researchers, clinicians and patients everywhere. "

I am excited about what this means. I have often been plagued by the dreaded Variant of Uncertain Significance. What that means in lay terms is "You're not quite normal, but you're not quite ill........Yet." It is one of the toughest things to counsel patients about and I hope the HVP will remedy that.

Genes for Heart Attack Risk/Prostate Cancer Risk

This week in the American Journal of Human Genetics 2 articles about genetic risk for heart attack are published. The findings raise hope of future therapeutic targets and identification of risks. The first study implicates the KALRN gene and an intronic(noncoding) SNP. This polymorphism(change in a gene) was found in almost all Caucasians with early heart attack. What does this mean? Very little so far. The results need to be replicated... But more importantly this gene operates in a totally different system than cholesterol in creating atherosclerotic plaques! The second study is more limited in scope and is less important for pan-ethnicity and only applies to French Canadians.

The news is just as exciting for African Americans as new studies implicated and corroborate other findings that a gene polymorphism could be responsible for up to 2/3rds of prostate cancer in this ethnic group. This set of data may lead to early detection or even prevention. This is the goal of all Personalized Medicine specialists....including myself!