What the F*&^

After reading Hsien's recent post, I am convinced how very much the UK needs a Sherpa. Listen to what is going on in Great Britain from Eye On DNA.

"The UK Human Fertilisation and Embryology Authority has approved the use of preimplantation genetic diagnosis (PGD) to select embryos free of the gene for early-onset Alzheimer’s disease (AD). The couple who applied has a family history of the disease on the man’s side. His mother, grandmother, and two uncles all died from early-onset Alzheimer’s."

Human Genetics Alert has been fighting the good Sherpa fight for years. The problem....the UK is still approving these techniques. I hate to tell all of you, but this is what is coming. Why scan a genome? Why do lightspeed sequencing when you have time to wait? Why? The answer is simple. To rapidly screen blastocysts to rule in or rule out suitability for implantation. I have spoken about Reproductive, Endocrine and Infertility Specialists penchant for not caring about epigenetic implications

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........

Let's face it they have yet to standardize the medium in which embryos grow. Has anyone done a solid analysis of the alteration methylation patterns that emerge while growing embryos in different media? Wouldn't it be crazy if these PGD children had some increased risk for cancer? It could happen. This is why you can't perform PGD for mildly increased risk. Why do we call a woman greater than 35 Advanced Maternal Age(AMA)? Simple, because that was the age at which the risk of miscarriage from Amnio equalled the risk of having a child with chromosomal anomaly. Now that the risk is decreased to 1 in 400 will this change AMA? So here's the question now.

Is the risk of having an epigenetic change in your genome predisposing you for cancer etc EQUAL to the risk of disease from polymoprhism in the embryo?

The Sherpa Says: Risk = Benefit is what physicians should always think about. Just because we don't know the risk DOES NOT MEAN THERE IS NO RISK!

About 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:

• 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;
  



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



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

1. 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.
   
2. 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.


3. 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!

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. We have developed our own.....

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.