Archive for November, 2007

Featured Q&A: Diagnosing Developmental Delay

Thursday, November 29th, 2007

At DNA Direct, our genetic counselors receive many questions about developmental delay — is it genetic, is it inherited, is it my fault? Our senior genetic counselor, Lisa Kessler, also moderates a medical genetics forum on MedHelp. Recently, she had advice for one frustrated mother seeking diagnosis for developmental delay. Lisa’s comments may resonate with many families:

Question: My 20 month old is on her third round of genetic testing. She has Global developmental delay, plus hypotonia. If these come back negative should I keep pursuing a diagnosis or throw in the towel?

Lisa’s Answer: Searching for a cause of developmental delay can be difficult and does not always provide parents with the answers that they are seeking. Only you can answer the question about when to take a break, stop, or keep going. (more…)

Media Round-Up: Personal Genome Services 23andMe, deCODEme, Navigenics

Tuesday, November 27th, 2007

As promised, here’s a round-up of media on the new personal genome services.

Commentary:

Straight news coverage:

The media is coming in fairly mixed. So how about you? Would you take one of these tests?

Technorati Tags: , , , , , ,

Opinions on 23andMe, deCODEme, Navigenics: Personal Genomics Services

Monday, November 26th, 2007

All the press and the genetics community are chattering about the almost simultaneous launch of deCODEme and 23andMe’s services a week or so ago. On my previous post, Ramunas asked me whether companies like these pose a threat to the condition-oriented testing and services that DNA Direct offers. On the contrary, I think quite the opposite. Here’s my response:

The press that these new companies are receiving is increasing people’s general awareness of genetics, risk and health. Many people may not be interested in these SNP scans, but the awareness might drive them to more significant risk issues that they are worried about — such as a cancer risk, or blood clotting risk, that’s based on personal and family history. (more…)

deCODEme: First “Genetic Scan” Launches

Friday, November 16th, 2007

Holy stealth mode, Batman! While everyone’s been buzzing about Navigenics and 23andMe — how they will be offering the first genome-wide array tests soon, what will they offer, how will people react to such information — that pioneering Icelanding genetics company, deCODE, just grabbed the spotlight (again).

Today deCODE unveiled deCODEme, the first consumer service for genome-wide testing. And it looks an awful lot like what we’ve been expecting from 23andMe and Navigenics. Here’s a smattering of what people have to say about it:

I think Nicholas Wade’s phrase “sample the whole genome” is misleading, but I’ll pass on this perspective:

The significance of most variation in the human genome is presently unknown. Most of the SNPs studied so far have been identified in the course of searching for the genetic roots of common diseases, such as cancer, diabetes and heart disease. Because the diseases are common, many people possess the underlying SNPs. So any interpretation of a person’s genome is at present heavily skewed toward generating ominous news. …
There are undoubtedly genes that promote longevity and good health but far fewer of these have yet been spotted. And environmental factors, too, can affect whether certain genes are ever activated.

(more…)

DNA, “Race” and Fears of Racism

Monday, November 12th, 2007

You see a UPI release like this one, and you think, “DNA advances fuel racism fears…or is it the media fanning those flames?”

Here’s my take: We’re talking genetic exceptionalism, again. The concept of “race” has always been a social construct, with a visual shorthand and local-history definition. Put simply, who did you look like and who was your family? Through social criticism and liberation theory, we’ve developed the vocabulary to appreciate race as cultural and historical identity. Our growing scientific understanding of biological differences don’t fit neatly into this paradigm.

If we consider the current scientific work in genomics — which is that DNA is just one piece of the -omics puzzle that is each individual person that includes the proteome, the methylome, the epigenome, and so forth — then, how can it be as simple as “You (and your race) are defined by your DNA.” Science has never been that simple, although rogue factions are always trying to make it so. (more…)