Of Media and Men...Down Syndrome Evangelists

Yesterday in the New York Times there was a front page story about first trimester screening for chromosomal diseases and the families of children with Down Syndrome. These families are inviting pregnant women who test positive to come meet their children with Down Syndrome. They do this in hopes of showing the pregnant woman what it is like to have a child with Down Syndrome.

I normally don't get too heated about the media. There are things I generally accept regarding the old media and genetics

1. They have people reviewing the science who have little if any genetic qualifications


2. They hype everything


3. They always look for a protagonist antagonist situation


4. They never look to support personal choice (Trust me they already have chosen for you)

So with that in mind I invite you to read this article if you haven't already. I would like to give you a little snippet here:

"The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity."

Come on now NYT, word choice is everything here and it is clear that this paper feels strongly NOT in favor of these parents.

"They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children."

I have a hard time pressing obstetricians to refer for genetic counseling. I have a hard time believing that these parents are even given the time of day by the Ob/Gyn, let alone being influenced or bullied.

The Gene Sherpa says: In the spirit of non-directive genetic counseling (something I rarely see CGCs do completely and something I wonder if the public even wants) we should offer all options to the patient. This public forum/support group could be mentioned just as easy as a D&E. In fact I think all options should be on the table PRIOR to testing.

Read the article and let me know how you feel.

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?

Autisms versus Mental Retardation.

Today a company called Avicena and the University of Cincinnati will be presenting on a gene mutation found in patients diagnosed with Autism. The sample size was 100 male autism spectrum patients aged 3-18 years old.
The mutation was found in a gene called SLC6A8 (creatine transporter gene)
This gene is located on the long arm of the X chromosome. This likely is the reason male subjects were screened. What was found is that 1% i.e. 1 patient was found with the mutation. Previously this gene has been found in 2% of X-linked mental retardation. Second only to Fragile X Syndrome which is screened for prenatally.

The Gene Sherpa says: Personally I don't think we can call this an Autism gene per se. Patients with even mild MR(mental retardation) can have autism spectrum signs and symptoms.The OMIM listing indicates at least one "autism-like" child. I feel that is the more likely case. I can't believe this Pharma company has issued a press release for this, nor can I believe that someone in the media picked this up, other than the emotional pull for these families with afflicted children.

Nature or Nurture? Yes.....

In Science this week my hero Francis Collins states his ultimate desires and has finally broken through by pushing the linking of the US governmental departments of National Human Genome Research Institute and the National Institute for Environmental Health Sciences. The director of NIEHS Dr David Schwartz PhD agrees that these two organizations have taken too long to speak. I view this combo like I do a Reese's Peanut Butter Cup. Chocolate and Peanut Butter, both great.....even better together!

Why? Despite all of the big companies out there designing the best drugs.....which may be taken once, twice or three times a day. We breath air 12 times a minute, drink/eat more than 5 times a day, shower, swim, wear clothes, inhale 2nd hand smoke, taste pesticides, use plastic, microwaves, radio waves, cell phones......You get the drift. The project is called the Genes, Environment, and Health Initiative, which already has a $40 million annual budget. Now not just the right drug for the right person and the right disease, but the right diet, the right water, the right exercise, the right environment! Imagine the relocation to avoid cancer, or to prevent diabetes. In all seriousness, this effort will take decades. But with Francis at the helm I am sure a milestone or two will be broken. After all the Human Genome Project finished 2 years early.....

Looking For Love

Now that I have HONcode accreditation I am looking to expand The Sherpa's message. This is an unsolicited plea for your links. Please help me grow this blog. I am dying to get the word out. Personalized Medicine is coming fast and furious. You may not be aware of it, your physician is definitely not aware of it, but rest assured testing companies and pharma companies are all too aware. I will keep you abreast of the tsunamis of info and will give you the critical review that the media never does. So please....calling all links :)

Thanks

-Steve

The Sherpa is HON certified!!!

Earlier this week I applied for the HON Code accreditation. Why? I am dedicated to providing credible education and information. And I will not settle for anything less.

HONcode indicates this. How? The approval shows that at The Gene Sherpa I aim to abide with the 8 aims of Health On The Net. What are those aims?

1. Authority (I show you my credentials...CV upon request)
2. Complementarity (I don't ever try to replace the skills of your physician. Unlike some blogs/DTC websites...)
3. Privacy
4. Attribution (I cite sources that I use)
5. Justifiability (I will back up any claims made on my site)
6. Transparency
7. Financial Disclosure (I am not a company shill, and would admit it if I were)
8. Advertising Policy (I don't disguise advertisements as "new info/studies") I won't sell ad space unless I need the money to operate this site.

What is HONcode? "The oldest and the most used ethical and trustworthy code for medical and health related information available on Internet.The HONcode is designed for two target audiences: the general public and the web publisher, actively involving the site owner in the process of accreditation." -HONcode website

"The HON Foundation is a Non-Governmental Organization, internationally known for its pioneering work in the field of health information ethics, notably for the establishment of its code of ethical conduct, the HONcode" -HONcode website

Are you looking for HONcode accreditation?

The Gene Sherpa says: You should be. Be wary of internet sites that have not been verified by this process.

New Crohn's Disease Genes Found

Big news in the world of IBD!

Crohn disease and ulcerative colitis represent the two common forms
of idiopathic inflammatory bowel disease (IBD), each with a prevalence
of roughly 100–150 per 100,000 individuals of European ancestry
This week in Nature Genetics a "genome-wide association study of Crohn disease
and two independent replication studies identify several new regions of association to Crohn disease."

This has been a disease that has multiple postulated causes. Some of the more modern include host-bacteria interaction leading to inflammation and disease. These associations implicate this as a possibility. More importantly they indicate risk of disease
The genes are in addition to CARD15(NOD2) and IL23R.

A coding variant in ATG16L1, the latter of which was also recently reported by another group is proven to be required for pathogenesis of Crohn's Disease. This gene is responsible for a process known as autophagy (required for our intrinsic immune system)

For non-scientsists/physicians

What does this mean? Well alot. If this is true, which it looks likely, then the next step is to clear the bowels(removing bacterium/Salmonella) of these persons with this polymoprhism. This would be another example of the possibility of personalized medicine.
Treatment based on predisposition. I am sure there are also pharma companies looking at halting ATG16L12's function with RNA intereference as demonstrated in this study!