Blog Entry

Long time, no blog

It's been a tough month for me, as I closed a chapter many years long and moved on to permanent residence in Portland, Oregon. I'm trying to catch up on what's been happening in the world of genetics and--in my usual way of following distractions to see where they lead--found out that

Professor Randy Pausch, author of the remarkable and inspiring book "Last Lecture," has passed away at the age of 47. A dear friend to Diane Sawyer and 'Good Morning America,' Pausch's lecture and subsequent interview was one of the most powerful accounts of hope, grace and optimism "GMA" has ever featured, and drew a worldwide response.

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Genetics resources on the Internet

I received an announcement today of a new wiki endeavor--wikigene. The site is intended to provide a location for gathering and coordinating information about individual human genes. Like other wiki sites, it will be open to contributions and editing by anyone who wishes to do so. There will be oversight to avoid posting obvious junk, but the idea of letting the interested community develop the majority of the text is being preserved. 

The launching of the site was announced today in PLoS Biology, an online peer-reviewed publication. I assume it is also being announced on PLoS Genetics, but I haven't received that notice yet. The article is described as follows:

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Selecting "healthy" embryos by preimplantation genetic diagnosis

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. 

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Nutritional supplementation and genetics

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.

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Will back door regulation work on genetic testing companies?

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.

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Who determines whether you can have a genetic test done?

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.

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Wired says, "Do not hinder genetic testing"

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.

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Genetic testing under fire

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:

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Using genetic testing to improve mental health, 3

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.

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Using genetic testing to improve mental health, 2

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.

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