Genetic Testing

I almost missed Good Morning America's piece about the couple who selected which embryos to implant so they could  "guarantee" that their child would not have breast cancer. So many, many misconceptions arise from this event, as well as challenges to individual personal values. Let me talk a bit about the misconceptions, since I'm not intending to challenge anyone's deeply held values. 

First, a great kudo for Robin, who carefully chose each word she spoke about the event and its implications.  Her introduction was clear and accurate, with just the right amount of interest and no hype. 

My thanks today to Tammy Antzler, who supplied me with three references to information on research and progress in personalized nutrition. 

The first reference is a 75-page report from the Department of Health and Human Services on Personalized Health Care (PHC). The report details agencies of the government that are involved in the many different aspects of PHC. There are a few, very brief, references to diet, environnment, and genetics. These are generally genome studies--populations, not individuals.

At least one of the companies cited in the States vs. genetic testing issue is fighting back. Their argument? DNA is data not blood.

As far as I'm concerned, their challenge is fantastic!

Advocates of genetic privacy and regulation of genetic testing have been urging the Federal government to get involved for some time and both the FDA and CMS (which handles Medicaid and Medicare) have said that it's too early to worry about regulations or oversight. So, New York and California have taken up the gauntlet and challenged companies offering genetic testing services "illegally" in their states.

Here's an interesting aspect of the recent crackdown on genetic testing labs by the states of California and New York. Shari Roan of CNN asked:

Should a doctor's authorization be required for someone to obtain personal genetic testing? So far, California and New York state authorities say yes. But this debate is just beginning. The controversy is being played out this week on the many genetic medicine blogs.

Fans of late night t.v. are familiar with "the top 10 reasons . . .", which are always given tongue-in-cheek. But, today's entry from Wired has a more serious note to it. Here are their top 10 reasons not to prohibit Californians and New York Staters from purchasing and using genetic testing offered over the Internet:

10. Early adopters are far from naive.

Ask yourself who spends $1,000 for the privilege of spitting in a vial and sending it off to Illumina for analysis by microarray. These people are responsible geeks, technophiles, Wired readers -- not the average Joe. They know darn well what to expect from these tests -- trivia and increased self-awareness.

As I reported a month or two ago, some genetic testing firms have been receiving letters from some state officials telling the firms to prove they meet the state requirements for genetic testing or stop accepting test kits from residents. At first, it was only New York. Now, California has joined the fray. Although neither state agency will identify to whom the letters were sent, newspaper writers have been calling around to see if they can identify the perpetrators.

Most of the reports are based on a release from the Associated Press, which includes the following:

Information presented at NARSAD's 3rd annual Boston Mental Health Research Symposium on May 30 at the Harvard Medical School,and reported in Therapeutics Daily, included data on family traits that provide clues to genes for schizophrenia and bipolar disorder:

Deborah L. Levy, Ph.D, associate professor of psychology in the Department of Psychiatry at Harvard Medical School and director of the Psychology Research Laboratory at McLean Hospital, is studying families to detect relatives who are carriers of the genes for schizophrenia and bipolar disorder, even though these individuals don't have the diseases themselves.

How is new information being gained about genes helping us actually treat diseases? That was one focus of a series of presentations to NARSAD's 3rd annual Boston Mental Health Research Symposium on May 30 at the Harvard Medical School recently. According to an article in Therapeutics Daily,

. . .the studies are shedding new light on how specific genes contribute to the susceptibility to and pathology of schizophrenia, bipolar disorder and depression, some of the most severe, chronic and disabling mental illnesses that collectively affect an estimated 40 million Americans. Coming at a time when some treatments for mental illnesses are a matter of trial and error, these findings are paving the way for the development of novel therapies targeted to specific patients and to specific genes.

Part 1 of a series on genes and mental health. Taken from an article published in Therapeutics Daily.

Two genes have been identified as associated with schizophrenia:

• GCPII (glutamate carboxypeptidase II), which controls the absorption of folate and may be deficient in people with schizophrenia,
• MTHFR (methylenetetrahydrofolate reductase), which activates folate for use in the brain

Donald C. Goff, MD, director of the Schizophrenia Clinical and Research Program at Massachusetts General Hospital and a leading researcher on the role of genetics in the development of new treatments for schizophrenia, pioneered research that identified a link between low blood levels of folate and negative schizophrenia symptoms. Folate, given routinely to pregnant women as folic acid and often recommended for maintaining brain health in the elderly, is (according to the article) "involved in many different chemical pathways in the brain, including keeping levels of the amino acid homocysteine low. When homocysteine levels are too high, this interferes with the functioning of receptors located all over the brain -- called NMDA ( N-methyl-D-aspartate) receptors -- that are critical to learning, memory, brain development, and general neural processing."

So far, many of my posts on genetic testing have been focused on the availability of testing, quality of testing, and interpreting the results. I'm getting a bit bored--and perhaps you are too--of repeated suggestions that genetic testing available to the public is not yet as useful as headlines often state. If you haven't gotten the message yet, read some of the old posts in this theme.

Today, I want to move on to ways in which scientists and physicians are using the results of targeted genetic testing--that is, working with a specific gene rather than the whole genome--to identify potential therapies for conditions that are not fully responding to current therapies.