Saturday, December 29, 2007

Welcome to Helix Health of Connecticut

Well, I have been getting alot of questions regarding our personalized medical practice on Park Avenue in New York City. I have been reluctant to tell everyone, but I figure that I might as well let everyone in on our "secret"

My philosophy is the power of genomics should empower patients and providers.

Together as a team we can prevent some horrible diseases and avoid some horrible adverse drug reactions. How do we do this? We take the skills from a multidisciplinary team and identify risk. We feel that the most powerful genomic tool out there is family history (Sorry Hsien). This has been validated over and over again in epidemiological studies. In fact when Mike Leavitt indicate in his foreward of his Personalized Health Care report

"One part of the foundation for such a change is our rapidly growing understanding of the human genome and the processes it directs. We envision health care that could:

  1. predict our individual susceptibility to disease based on genetic and other factors;
    provide more useful and person-specific tools for preventing disease, based on that knowledge of individual susceptibility;

  2. detect the onset of disease at the earliest moments, based on newly discovered chemical markers that arise from changes at the molecular level;

  3. preempt the progression of disease, as a result of early detection;

  4. and target medicines and dosages more precisely and safely to each patient, on the basis of genetic and other personal factors in individual response to drugs. "

I thought he had read our business plan. But then I realized, anyone with an insider view would have to conclude the same thing. This IS personalized medicine. I think that the fields we will see explode are services which Helix Health of Connecticut is offering.

The problem I have always had with academic genetics is 3-fold.

  • Most geneticists are pediatricians (8 in 10) and have not been trained in adult chronic diseases or even used most medications that are intended for adults.

  • Traditional genetic care offered in the "Ivory Towers" is diagnose and adios. They have no desire to offer close follow up. In fact, in the time that I worked at an academic center we did very little to recontact those difficult clinical genetics cases. Only metabolic patients get the close follow up needed.

  • There is NO privacy at a big center. In most places you are pushed through like a means to an end.

  • The last problem I have with traditional genetics lies in how we acquire medical information.

In a clinical genetics appointment of 45 min to 1 hour you get a fam hx from the genetic counseling student which takes 20 minutes, they attempt to take a medical history (despite having no medical training), they then present to an attending or fellow (10-20min), who then comes in a confirms the information. Now with 15-20 minutes the attending has to explain complex genetics and inheritance to you, send off subtelomeric, CGH, karyotype, genetic tests, etc. And you get ONE follow up appointment and may wait 6 months for another appointment.

In a cancer genetic situation you do have more time. Perhaps if your counselor is good, you get adequate follow up and acquisition of information. You may be seeing a geneticist (Who has not trained in adult oncology) or you may be seeing an oncologist (Who never trained in genetics) If you even see a physician at all. This is not to knock my CGC friends. They have truly great talent and training, but learning what to do with your Plavix is not one of them. In fact our head counselor said "When I took a family history and it looked like there was early heart disease I said to myself 'I know something is there, but what do WE do about it?' Therefore the problem lies in the training or perhaps in the team.....

And please do not get me started with the Chop Shop known as "prenatal genetics/high risk OB clinic" Where the standard is to get as many people as possible into and out of the counselors office and the into and out of the amnio as quickly as possible. Where is the CARE in that? Is there any PRE-Conception care out there? There is at Helix Health of Connecticut of CT!

What kind of medical informatics system is employed at most academic centers? Archaic at best in most. At least where I and my partners have been. When even the highest powered EMRs cannot distinguish between maternal or paternal lineage, then you have a problem.

Lastly, where is pharmacogenomics? Where is chronic disease risk stratification? Oh I forgot, geneticists don't do this, nor is there training for this in classical genetics fellowships. All of this and more is available in my vision of what personalized medicine should be. Helix Health of Connecticut is Personalized Medicine for the 21st Century(TM)

The Sherpa Says: Helix Health of Connecticut of CT is my dream, my vision and the tip of the personalized medicine spear. I know this may seem like an advertisement, it is not. It is the road map which all personalized medicine practices should follow. When you take Prediction, Prevention and Privacy to the highest standards of care, you are bound to succeed. Interested? Email

Wednesday, December 26, 2007

Highest Breast Cancer Risk! Hispanic women.......and Men!

In the December 26th issue of the Journal of the American Medical Association an article caught my eye. It turns out that Hispanic women(and men) have the highest carrier rate for BRCA1 mutations aside from the Ashkenazi Jewish population.

The study sought to identify carrier rates among several different ethnicities. This is important because traditionally we have had little data on women of color as well a worse outcomes in African American and Hispanic women with breast cancer. There have been several hypotheses for this.

This study performed by the Northern California Cancer Center had methods of design where they sought "patients younger than 65 years with newly diagnosed breast cancer and meeting defined eligibility criteria, and their family members, were enrolled

This analysis is based on women diagnosed with invasive breast cancer between January 1, 1995, and December 31, 2003. Patients were identified through the population-based Greater San Francisco Bay Area Cancer Registry, which ascertains all incident cancers as part of the SEER (Surveillance, Epidemiology, and End Results) program and the California Cancer Registry.

We recruited patients with oversampling of patients having characteristics suggesting an inherited basis for their cancers.

In stage 1 of sampling, we administered a brief telephone interview to all patients and assessed self-identified race/ethnicity and family history of breast and ovarian cancer.

In stage 2, we invited all patients in category A and a random sample of patients in category B (2.5% of non-Hispanic whites and 33% of all other races/ethnicities) to enroll in the family registry.

Participants completed questionnaires on family history of cancer and breast cancer risk factors and provided a biospecimen sample.

This 2-stage sampling design provides unbiased estimates of mutation carrier prevalence having greater precision than those obtained from a simple random sample of the same size.

What did they find?

Among African American, Asian American, and Hispanic patients in the Northern California Breast Cancer Family Registry, the prevalence of BRCA1 mutation carriers was highest in Hispanics and lowest in Asian Americans. The higher carrier prevalence in Hispanics may reflect the presence of unrecognized Jewish ancestry in this population.

In the editorial after it states a similar quandary

What are the reasons women are not offered genetic counseling and testing as part of a comprehensive risk assessment program? Are minority patients less likely to accept genetic counseling, or are there barriers to physicians offering the test to minority women? A recent case-control study found that African American women were 78% less likely to use genetic counseling and BRCA genetic testing than white women. Data on BRCA testing from Myriad Genetics Laboratories showed that less than 10% of individuals tested were from minority populations, such as Hispanics, African Americans, Asian Americans, and Native Americans.

Given that most literature on genetic testing has focused on Ashkenazi Jewish and non-Hispanic white women, it is conceivable that clinicians are not aware of the clinical usefulness of BRCA testing among US minority populations. To compound the problem, most of the available risk assessment tools were developed using empirical data collected mainly in non-Hispanic white populations. Their applicability in other populations is uncertain. Other models were developed based on mendelian principles and the Bayes theorem. Of these, the BRCAPRO model has been widely used in the genetic counseling setting, and its performance has been evaluated mostly in white populations. However, as an essential parameter of the BRCAPRO model, the prevalence of mutation carriers is available only for the Ashkenazi Jewish and non-Hispanic white populations.

The Sherpa Says:

If you are using the Gail are putting yourself at risk for missing cases. In addition, not all BRCA carriers are Ashkenazi. Maybe insurers need to wise up and start covering testing for other ethnicities as easily as they do for the Ashkenazim. However, these data must be interpreted with caution as they assume the penetrance of the BRCA1 to be the same in minority patients as they are in Caucasians. In addition, there is no analysis of BRCA2 carriers. But this is a great starting point.

Saturday, December 22, 2007

deCODEme results, Thanks Med-Source!

The Sherpa Says: Thanks to Megan for publishing this to the web. I am certainly interested in the medical aspects of these companies. Being pragmatic is different than being skeptical. I am both. Thanks to my other pragmatic skeptic Dr. Colby for pointing this video out for me.

Friday, December 21, 2007

Warfarin rears its ugly head

I swear I have seen more intracerebral hemorrhages from Coumadin in the last year than in the any of the literature stating it's incidence. Last night I admitted an elderly gentleman who was in his usual state of health until he slipped on the ice and bumped his head. He then carried about his business for a day and a half. Then as he went to work his secretary noted him acting unusual.

When he showed up in my Emergency department, he had an INR of 9.4

For all of those who don't know what an INR is, 1.0-1.4 is normal. This is abnormal, big time.

He had traditionally been on a very low dose of coumadin (I.E. poor metabolizer) The problem was not that he just had very thin blood, the problem was the huge bleed he had in his brain!
What can we do about this problem? I have mentioned the future of coumadin therapy several times. I was just speaking to Dr Isadore Rosenfeld yesterday who pointed out to me that a recent study once again shows how beneficial Warfarin is in preventing strokes caused by a condition known as Atrial Fibrillation. The incidence of Atrial fibrillation increases as the population ages. Therefore, I am certain that we will begin to see more poor metabolizers and even more poor outcomes.
The Sherpa Says: On Coumadin? Mind your INR? Starting Coumadin? Get your metabolizer status checked! If you are in NYC or Greenwich come see us. Thank you to GTO for the early Christmas present....

Wednesday, December 19, 2007

Genomics Into the New Year

What will the New Years bring genomics. Well, I have had my ear to the ground and have some ideas.

First the obvious
1. GINA will be passed by hitching a ride on another bill. How sad is that?
2. Navigenics will enter the fray and telemedicine will have a whole new face. What that face will look like is yet to be completely determined.
3. One of these companies will get sued

Next the less obvious
1. Academia will start to market personalized medicine
2. Helix Health of Connecticut will not be the only face to face private (non-Academic center) personalized medicine service...and they will be welcome friends. There are so many out there who need this.
3. Oprah will have her Genome sequenced ( I swear it will happen)...Obama too

Finally the inconceivable
1. Jim Watson will pass from this earth
2. A little unnamed startup will win the X-Prize
3. Mark Cuban will buy the rights to all of 23 and Me's genome database

The Sherpa Says:
To know the future we must look at the past. And if we fail to learn the mistakes from our past, we can always blame our genes. Or at least have the journalists tell us we can.

Saturday, December 15, 2007

Not Again OMG UK!

In another amazing step towards eugenics. Britain has awarded a couple the right to prenatal test for familial hypercholesterolemia. This way they can then terminate a pregnancy that may results in a child plagued with the disease of high cholesterol and heart attacks. In the Times

FH occurs in two forms. The more common version, heterozygous FH, affects 1 in 500 people. It is caused by a single mutated gene, which raises cholesterol and thus the risk of hardened arteries, heart disease and stroke. It can usually be managed with statin drugs and diet.

Britain’s first licence to test embryos for FH will be awarded next week to Paul Serhal, of University College Hospital in London, by the Human Fertilisation and Embryology Authority (HFEA).
Its decision breaks new ground because it permits Mr Serhal to screen out not only the severe form of the condition but also the milder type, which is usually treatable.

In addition this brings the thought of pre-implantation genetic diagnosis (PGD) for the disease. I know many people who are heterozygous for this disease. I treat them with cholesterol medications. Do I tell them they could have PGD? No. Do I tell them that their children will be at risk for heart disease? Absolutely. Is this a treatable condition? You bet. Can it be devastating? Yes. Does that mean we should PGD every gene you may not want? Hmmm this sounds familiar.

So where do we go from here? Gattaca.

Well, this certainly is a slippery slope. Let me know your opinion. This Times readers opinion says is very nicely

Lucky for us that the parents of (Agatha Christie - Alfred Lord Tennyson - Algernon Charles Swinbunre - Blaise Pascal- Charles Dickens Dante - Edgar Allen Poe - Edward Lear - Fyodor Dostoyevsky - Gustave Flaubert - Guy de Maupassant Lewis Carrol - Lord Byron - Professor Manning Clarke - Pythagoras (Philosopher & Mathematician) Sir Walter Scott - Socrates - Truman Capote) weren't tested for Epilepsy. Our world would be a much less interesting place.
Martha Ware, Hammonton,NJ, NJ/USA


Friday, December 14, 2007

Education Initiatives

I have been sick with a nasty virus this week. Vomiting has been the order of the day....yuck :(

Because of this, I will keep this post extremely short but useful. The SACGHS meeting was held last month and I think it was huge. There are a lot of good webcasts that are a must watch.

The rate limiting step of personalized medicine is physician uptake, and the rate limiting step in uptake is education. The SACGHS meeting on the 20th of November was huge reviewing efforts and ideas for education

Overview of Session
Barbara Burns McGrath, R.N., Ph.D. Research Associate Professor at the University of Washington School of Nursing. She reviews nicely the outline for the day and gives us a guideline.

Please check out the lecture given by the National Coalition for Health Professional Education in Genetics Executive Director. He describes a database similar to the one we are working on.

In addition, we need to utilize physician extenders. The advantage of having nurses in genetics is the fact that they have had some education in medication dosages and medical conditions. The same applies for physician assistants in genetics. But they will never replace the counseling abilities of professionals who have trained for 2 years in the field of genetic counseling.

Elizabeth Pestka, M.S. Assistant Professor of Nursing at the Mayo Clinic College of Medicine describes the 80 or so nursing organizations. It turns out 40 of those, 50% agreed to help include genetics into the nursing competencies. In 2006 there was a meeting to implement these competencies into practice.....This is where I sat back in awe. It is 2006 and they are just getting around to integrating these competencies? We are screwed for the next 4-5 years! But it turns out according to Nurse Pestka that these proceedings often take up to 17 years to become integrated!!!

I have worked with a nurse geneticist at Yale and I have to tell you how wonderful it is to share call with a nurse practitioner who is trained in genetics as well. I think we can really leverage our efforts with these talented individuals....I hope it doesn't take 17 years!

The Sherpa Says:
Now if we can only train genetics counselors in medicine!!!

Thursday, December 13, 2007

Wall Street Journal Agrees....We Need More Sherpas

In the WSJ today and also on GTO it seems we have a common theme. Something perhaps that I have been saying all along. It is nice to see Gautam agree with me....

From the Article:

Ever since the human genome was deciphered seven years ago, companies have been rushing to sell genetic tests directly to consumers. But buyers, beware: Many of the claims that accompany these tests are not fully supported by science.

Read my post about it

deCODE genetics' test for a gene variant linked to Type 2 diabetes: Some research says the predictive value is weak....

"The predictive value of the genetic test is pretty poor," says David Melzer, a professor of epidemiology at the University of Exeter, England. Last year, Prof. Melzer and colleagues published a study based on data collected from more than 900 elderly people in villages near Florence, Italy. They found that 80% of the people who tested positive for TCF7L2 didn't get Type 2 diabetes in old age. And nearly 40% of the people who had diabetes didn't carry the gene variant at all.

This One Too...

"The significance of the risks uncovered by these tests is very, very small," says Stuart Hogarth, a fellow at the Institute for Science and Society at the University of Nottingham, England, who has studied the genetic-testing industry. "Commercialization of genetics tests at this stage is premature."

Oh I think I said this too.....Twice

Let's chalk this all up to media hype...Or the lack of appropriate medical knowledge to combat the hype

"The Sherpa speaks the language of the trail, he/she knows short cuts and dangerous paths to avoid."

I hope I have served my readers well.......I know my Helix Health of Connecticut has.


Wednesday, December 12, 2007

Toxic Epidermal Necrolysis and Pharmacogenomics

For those who don't know what TEN is. I have a picture for you.
Toxic epidermal necrolysis (TEN) is a clinical syndrome characterized by severe exfoliative skin changes, erosive mucosal involvement, and potentially life-threatening multisystem involvement. Although this syndrome is considered uncommon, its true incidence may be underestimated because of a spectrum of manifestations that may lead to misdiagnosis of milder forms of the disease. TEN most commonly occurs in adults and is seen slightly more often in females. All races are affected
Yesterday, the FDA issued guidance for pharmacogenomic testing of patients taking the medication carbamazepine. What is this drug? It is used in prevention of seizures treatment of mood disorders and schizophrenia.
More than 100 drugs have been implicated. Medications most often involved are systemic sulfonamides and other antibiotics, allopurinol (Zyloprim), antiepileptics, and nonsteroidal antiinflammatory agents . The time from the first dose of a drug to the first cutaneous manifestation is usually 1 to 3 weeks
This medication has now been flagged as a cause of TEN that has preventable testing. In addition to the novel testing of an HLA haplotype, the drug is metabolized by CYP 3A4. CYP testing is available for ultrarapid metabolizer status. However, that is not what causes TEN. No one knows exactly what causes TEN for sure.
But the biggest problem is the 30-40% of people with this disease die from it or it's complications. Now wouldn't it be great if we could at least test a sub population at risk for this before giving this medication?
We can. From the FDA
Significantly more common in patients with a particular human leukocyte antigen (HLA) allele, HLA-B*1502, this allele occurs almost exclusively in patients with ancestry across broad areas of Asia, including South Asian Indians. Genetic tests for HLA-B*1502 are already available.
The Sherpa Says:
Ladies and gentlemen, I submit, we are now moving in to the era of personalized medicine. This test is yet another example. If 2007 was the year of the personal genome, I say 2008 will be the year of the personalized medical care. I hope that we can accurately represent the utility of these services. Wingedpig once again comments on the shortcomings. Also, where are the BRCA SNPs? Has Myriad's attorneys knocked on 23andMe's door yet?

Tuesday, December 11, 2007

23 and Me and You, On a date!

Another Day, Another Genome Scam!

For 2000 USD, you too can have a date with DNA!

The Boston News covers a little known start up called
Cute name I know. Total ripoff...I know

The Guy at the end of the news broadcast says it all. BTW the scientific data which this guy uses is so bogus that I will not talk about it. But you can take a look at it here.

The Sherpa Says:
This is so sad that I don't know what to say......

Monday, December 10, 2007

Jason Bobe is a tremendous writer.

When reading blogs all the time. Well, not all the time but the 5 minutes in the AM and the 20 minutes I have each night. I continue to be amazed by the breadth of knowledge that the DNANetwork has. In addition, I am blown away by the writing ability of some.

The person who I bring to your attention is Jason Bobe over at The Personal Genome
Here is a snippet of what he pens (types)

The era of personal genomics will transform our notions of risk in many ways. In the realm of health and medicine, we will soon have much more specific information about our baseline risk for a health outcome, such as a disease or a pharmaceutical drug response, and how it is influenced by our DNA and modulated by other factors like physiology, lifestyle, and environment. At some point, we will have health risk profiles that prioritize and sort risks according to severity, immediacy, and whether effective strategies are available for managing them with pharmaceuticals, lifestyle modifications, or other medical interventions. There might even be a richter scale for genomics one day. This vision of the future is often referred to as “personalized medicine”.

Succinct, Explanatory, Brilliant if you ask me. He wonderfully explains a topic and breaks it down nicely. He brings issues to the forefront and posits answers.

I wish I had more time. I was invited to participate in Second Life. I would have loved to. Unfortunately I am too busy to have a first life....If you get the chance check out his recent post on virtual conferencing.

Lastly I want to point you in the direction of the SACGHS. If anyone has a big say in how the government will set up personalized medicine, it is this group. I have told you before about how they advise the Secretary of HHS. There latest meeting was last month and I am digesting all the data. Stay tuned.....

Sunday, December 9, 2007

Algorithms and Validation

A friend of mine asked me "If the framingham risk assessment fails to take family history into account, then why do we use it to guide anti-cholesterol therapy?" My answer was "It is scientifically validated."

In medicine we like to do things based on evidence. It is true that we do many things that do not have solid evidence behind them. But we always try to acquire data and then make a rational conclusion, leading to a treatment. When it comes to risk prognostication, validation studies are extremely helpful. And often keep us from getting sued.

So what did the Framingham do to be validated?

The Framingham Heart Study and the Framingham Offspring Study were the first epidemiological studies that prospectively collected population based data on the association between risk factors and the occurrence of fatal and non-fatal coronary and other cardiovascular events in a systematic and sustained fashion. It has been dissected for it's validity over the years.

So can we use the Framingham for everyone? Well, in Europe they tried. Several articles like this one show that the risk tool must be validated in the population you plan to use it for. The Framingham doesn't work so well on the Dutch. However when modified by the REGICOR, Spain's NHLBI, it seemed to perform well for the Spanish. The same with the Chinese modification.

You may now be asking what the heck does this have to do with Personalized Medicine. My answer....Everything. You see part of personalized medicine is prediction. That's why Helix Health of Connecticut trademarked "Prediction, Prevention, Privacy" These are the pillars of genomic medicine.

How can you predict the likelihood of Alzheimers in 5 years? Well, there are some corporate genomic companies doing it without having ever submitted articles for peer reviewed publication. They have "Trade Secret" algorithms that calculate risk. What the hell? How can you trust the accuracy of an algorithm without validation?

This is why we advise against using the Gail model for breast cancer risk. It can only work for certain populations, absolutely not for African Americans. There are new attempts at this type of risk stratification, and several attempts to defend the Gail model. But what has evolved is even more important. New algorithms...that were put to the test and peer reviewed.

Which brings me to my last point. What good is a tool if you don't know how to use it, or who it works for? A recent post on Wingedpig points this out. Confusion as to the tools. But what I wonder is what tools they used to create the tools. Would they publish their algorithm? Should they have to? Should other companies who will foray into medicine have to? As for SNPedia...a great resource, but the results are just like a wikipedia....not exactly peer reviewed.

The Sherpa Says:
The votes are in. I am surprised of the results. 23 and Me is the big winner. Why? Well, they specifically state that they do not intend their tools to be used for medicine. Yet all the posts I read have authors who mistakenly are using it as a medical tool. (See the genealogists post "when will they learn") I would have thought the readers would have chosen Navigenics. Navigenics WILL use their tool as a medical device! So I have to ask them. Where are your data on algorithms? Where did you publish and validate them? Which algorithms are you using? I guess we will find out soon enough. 2008 is right around the corner.

Friday, December 7, 2007

Genetics Depression and PGx

In case you have missed it. There will be an excellent talk given at the National Press Club in D.C. I will be sending members of my team to these lectures on the broad policy issues emerging from growing understanding of the genetic basis of depression and other mental conditions, the ability to detect genes responsible for these conditions and offer therapy based on genetic tests, and the policy questions raised more generally by genetic testing for personalized medical treatment.

To register for the talks check out the Genetics and Public Policy website. Which brings me to my next topic.

Genelex now has a blog. For those who do not know who Genelex is.....

From their website:

  1. Nutrigenomics

  2. Ancestry Testing

  3. Paternity Testing

  4. Pharmacogenomic Testing

Why is this company offering all this testing? Because they can. They have dipped into every market....well almost.....No Genomes here! They have a solid reputation for results. Whether you can utilize them or not is a different story. But nonetheless they are a very reputable testing company. I am surprised that they aren't doing genome sequencing as well...

Has anyone read what the Economist has just published re:corporate genomics?

"Moreover, physicians' calls for scrutiny should themselves be scrutinised, because genetic testing inevitably transfers power from doctors to laymen.
That transfer of power brings responsibility, of course—the responsibility of consumers, aided by the gene-testing companies themselves, to interpret their new knowledge sensibly. If they do not, doctors' surgeries may be flooded with what have come to be known as the worried well, and regulation is sure to follow. If people do take responsibility, however, a healthier life awaits them."

The Sherpa Says:

How can we expect to have laypeople take responsibilty when the medical education community has turned their backs on this field for the last 50 years? How long does it take to make a medical geneticist? 4 years of undergraduate work + 4 years of medical school + minimum 4 years of postgraduate residency = 12 years. Does the layperson need 12 years of study? No. But one year is a minimum.....I hope you agree. BTW there are 2 days left to vote for who will get sued first. It's pretty clear 23 and Me is in the lead.

Wednesday, December 5, 2007

Delaware Reducing the Gap!

As I had talked about in prior posts Coriell has now officially launched the Delaware Personalized Medicine Project. For all of those genome seekers out there, I suggest that you check out this project.

Who is Coriell? Well in case you have never heard of the HapMap before today....

The Coriell Institute for Medical Research is an internationally known not-for-profit, basic biomedical research institution. The Institute's founder, Lewis L. Coriell, M.D., Ph.D., played a major role in bringing the Salk polio vaccine to the public by using cell cultures to study human viral diseases. The Coriell Institute was founded in 1953.

I initially had contact with the people from Coriell in 2005 at ASHG. This is an amazing group of dedicated individuals who are always carrying genetics forward. The Repositories at Coriell provided support to the Human Genome Project, a world-wide program to map the entire human genome, and to the International HapMap Project, a project to provide an efficient tool to identify disease causing genes.

The Delaware Valley Personalized Medicine Project© is a forward thinking, joint effort involving patient volunteers, physicians, scientists, ethicists and information technology experts whose goal is to better understand the coming impact of genome-informed medical practice and to guide its ethical, legal and responsible implementation.

The study will seek to discover presently unknown genes that elevate a patient's risk of cancer, heart disease and other complex diseases, to understand why patients often respond quite differently to treatments, and to explore how the resulting information can best be viewed and utilized by patients themselves and their physicians in a secure, user-friendly environment.


All patient volunteers will control their genetic profiles and will be able to determine for themselves whether they wish the information to become part of their personal medical records in the future.

The First Volunteer? A South Jersey Congressman....Maybe they can find the "Crooked Politician Gene"......Just Kidding....sort of :)

The Sherpa Says:

This is exactly what the field of Personalized Medicine needs. Not some project hidden behind fancy marketing and a cool website....or 3 million dollars of seed capital. This project will allow you total control over your genetic information and that is precisely what the public needs. I feel sorry for those who paid to have their SNPs resold at a higher price.

Family History Tidbits

In my search for useful news today, I have come across something near and dear to my heart. Karen Lu at M.D. Anderson has posted on the importance of taking a family history. Her spin is obviously tilted towards cancer, but the benefits of family history or just as important in diseases like heart disease.

From the site:

“Family gatherings are the perfect time to ask family members detailed questions about their health history,” says Karen Lu, M.D., co-medical director of the Clinical Cancer Genetics program at M. D. Anderson.
“It is important to gather information about the health history of your parents, siblings, grandparents, aunts and uncles, and even your cousins.”

She points out that there are some red flags to watch out for in your family.

1. Early onset of Cancer. (I say not only cancer, any disease is important here)
2. Family member with 2 or more "related cancers" (These include things like breast and ovaries. For more info see here)
3. Two or more family members who have related types of cancers. (Too bad some insurers require 3 members to be afflicted in order to pay for BRCA testing)

If you find some of these red flags you should at a minimum ask your physician about genetic evaluation. If you live in the CT, NY, NJ area give Helix Health of Connecticut a call. Genetic Testing may be appropriate for you and evaluation is needed.

Genetic testing involves looking for abnormal genetic changes in a person’s blood sample. People who inherit abnormal genes from a parent may be at increased risk of developing cancer.

“The benefit for the cancer patient who tests positive for an abnormal gene is that doctors can use this information to determine if they are at increased risk for a second cancer and to help family members,” says Molly Daniels, a genetic counselor at M. D. Anderson.

For family members, the benefit to learning that a close relative carries an abnormal gene is that they too can be tested to determine if they are at increased risk for developing cancer.

Those who test positive may begin routine cancer screening exams at a younger age than what is usually advised for the public. High-risk screening enables health professionals to detect cancers as early as possible when there is the best chance of successful treatment and cure. Those who test negative can be reassured that they are not at increased risk because of family history.

The Sherpa Says: The major risk factor in both heart disease and cancer is family history. Perhaps more so in heart disease. Evaluation for these risks need to be done on an ongoing basis. Remember, your family history changes with time. So if you have taken your family's history, up date it yearly or when something you know has changed. A great tool for this is found at the HHS website!

Monday, December 3, 2007

We need more Samples/Sherpas!!!

Genetic Research is a hard business. You have to fight and IRB to get your I's Dotted and Your T's crossed. You have to write and write and write grants to get funding for your ideas. You have to manage the project and work to keep everything on track. But what will the rate limiting step be in genomic research?

Perhaps it is the lack of samples?

From Medical News Today, an exciting announcement regarding Lupus. Lupus is a terrible disease where the immune system attacks the body's DNA. It can cause horrible things including, stroke, skin disease, kidney disease, brain inflammation. In fact a whole host of persons who have this disease are unable to function in society.

A new finding includes the discovery (Not Validation) of a gene implicated in Lupus' pathogenesis (disease cause) OX40L. These researchers have identified other risks as well. His findings are only mildly interesting as replication will be needed. But what is more telling is his plea to the British people

"Without DNA samples from people with Lupus, we would be unable to study the disease," he says. "Despite the disease being relatively common, DNA samples are in short supply. I would encourage patients to discuss with their GP or consultant about providing a blood sample to help further our understanding."

With all of these companies looking at your SNPs or your Exomes or your Genomes and the vigor with which they launch PR campaigns. One would hope they could donate their datasets to these Scientists in need.

I perosnally have been trying for months to help a friend donate her genome to a sequencing project. Hope fully the Delaware Valley project will take her code. I think that genome sequencing will ultimately win the day over some of this SNP Chip technology. Why? SNPs are not enough. Copy Number Variation will slowly be found to play as large a role...if not more. You can read about some of this here.

The Sherpa Says: Did anyone watch the 60 Minutes special on Sherpas in The City. Turns out that for their health Sherpas are moving to New York. Any Gene Sherpas in the batch? I sure hope so. The Gene Sherpas of the world are coming together for one big collaboration and I can't wait till we all can guide the genomic tourists of the world!!! Stay Tuned for the Sister services soon to show up on the scene. Heads Up L.A., S.F., CHI!!! Are you a Sherpa? Want to join the team? We would love to have you. Can't wait to see you all in NY!