genetics

The Genetic Information Non-Discrimination Act (GINA) prohibits the improper use of genetic information in health insurance and employment.

Why do I have such a hard time believing people's motives are so good and in the best interests of the insured in this story via a tweet from 23andMe.

A healthcare industry group (The Care Continuum Alliance or DMAA)

and employer groups are urging for a moratorium on GINA fearing that the law's restrictions on "underwriting" activities will harm enrollment in wellness programs,

23andMe, the personal genetics company has begun a new program funded in part by Google co-founder Sergey Brin. They are now looking for at least 10,000 PD patients to provide genetic samples and answer questionnaires about their own health experiences.

23andMe takes DNA samples from individuals (people spit in a cup) and then help them read and understand the results. The information provided includes data about ancestry, inherited traits and disease risk. Because their service is web based, they can get both specific information about a person's background (phenotype) through questionnaires as well as their genetic profile (genotype) via the DNA samples. This makes them a perfect central repository for genome-wide association studies (GWAS).

By centralizing the recruitment of individuals, the lab work and the collection of phenotypic data, we believe we’ll be able to move beyond traditional hurdles and take GWAS to a whole new level that we’re calling Research 2.0. We think the study of human disease and drug response deserves the application of 21st century technology, including the use of social networking tools proving so effective in web-based sharing of information à la Facebook and YouTube.

They are working with the Michael J. Fox Foundation and the Parkinson's Institute. As a person with Parkinson's (PWP), I am happy about the study and hope it yields some interesting results. I have requested a discount code via this link at the Michael J. Fox Foundation and encourage any PWP to do the same. The cost will be $25 vs. the standard $399 rate, and you will get all of the standard ancestry, inherited traits and disease risk information as well as the ability to participate in a Parkinson's specific community on their website.

This story about a father and his daughter who has an undiagnosed genetic disorder really hit home for me. As the father of a daughter born with a number of conditions caused by genetics I could relate to his obvious protectiveness and concern. He also reminds me of my wife who knows everything about our daughter's care, schedule of endless appointments and specific issues that need to be addressed or brought up to the correct specialist.

His dedication and determination were inspiring. From the late nights doing research and going over data to the search for the best specialists, his story is one of true love for his daughter.

One area in particular that is discussed in the article comes up time and again with parents I meet who have kids with special needs.

Rienhoff bristled at Milewicz's dismissive tone. "I remember thinking, 'Who the fuck is this person?' I have never been in a situation where it was so obvious that a doctor had contempt for the curiosity of her patients. It was striking how insensitive she was to their dilemma."

Such a prickly reaction is out of character for Rienhoff, a soft-spoken man who normally exudes an easy calm. But he has developed a cynical streak about doctors, especially those who are quick to dismiss inquisitive parents as nuisances. "Medicine in general is a slightly paternalistic activity," he says. "You hear these stories about patients bringing in all sorts of information from the Internet and doctors being exasperated. And part of that is because there is so much they don't know, and they're supposed to be omniscient."

Parents of special needs kids are often better informed and more knowledgeable about their child's needs and condition than the doctor's treating them. The rarer the condition and the broader spectrum of care required, the more this is true. A doctor seeing a child that visits 10 or more specialists and therapists is not going to be aware of everything and parent's of special needs children are particularly aware of this. One of the reasons is the number of misdiagnoses that their kids receive (I counted at least three major misdiagnoses in the article). Another issue is the number of times doctors give worst case scenarios. My wife and I were given an innumerable amount of worst case scenarios that did not turn out to be true.

However, this advice goes for all parents. You know your child best and doctor's are not omnipotent or omniscient.

A genetic mutation, actually a deletion on the heart protein gene MYBPC3, has been found to have a huge effect on heart disease in carriers that are middle aged. What is especially interesting is that this mutation occurs in upwards of 4% of the population of the Indian subcontinent. The mutation virtually guarantees heart problems due to the formation of an abnormal protein.

The importance of the discovery is that it helps identify those most at risk who need to lead a healthier lifestyle as well as a path forward for fighting a particular strand of heart disease that has an identifiable cause. The risk is that those of Indian descent are not genetically tested and discriminated against because of a genetic disease they have inherited.