Ruminations

Blog dedicated primarily to randomly selected news items; comments reflecting personal perceptions

Sunday, January 05, 2014

Curiosity, Analysis and Choice

Many people have a vague idea about their ancestry. They know most certainly of their ethnic grouping; they have an idea where their forbears came from, and who they might have been.  A good many people are so interested in genealogy that they go out of their way to pursue lines of enquiry through businesses set up to provide just that kind of information for the curious, enabling them to trace details of their near and far ancestral lineage they might never become exposed to, without the aid of others who are expert in twinkling out that information, knowing how to source it.

Most people aren't all that interested. Life is complicated enough, so why bother about something so remote as the past when the present offers its own conundrums to be solved or endured, and the future may or may not result in experiences that enhance life; sometimes complicating it yet further. But there are also sources that divine the past a little more scientifically down to the very DNA of each individual.

It cost a cool $15-billion investment to decipher the DNA in a human through the Human Genome Project. And, as with any scientific or technological advance, the initial investment is the pathway to eventually providing knock-offs on a far wider scale, where the advantage goes to those interested enough to poke about in their genetic background at a reasonable cost to assuage their burning curiosity. For a fairly reasonable $99, people from 50 countries are now enabled to access their genetic data.

It sounds improbable, but science has provided the means by which anyone's genetic information can be accessed.  All that's needed is a swab. Spittle will do, safely encased in a tube, sent by mail to a company established in California named 23andMe; a laboratory capable of scanning genes for 240 markers of possible health conditions, as well as revealing background information on ancestry. Many people would shrink with fear at the prospect of learning about potential serious health problems down the road.

But many more people, would be curious indeed about their ancestral details. The company is named for the 23 pairs of chromosomes in a human cell carrying strings of DNA encoding genetic information. And when it conducts its survey of one's genetic data it offers three groupings of information. An overview of ancestry with a breakdown of the DNA percentage that describes you personally; comprised of European, South Asian and sub-Saharan African heritage.

And a breakdown of your DNA relatives, which is to say a vastly extended DNA family going all the way from close members of your family to very distant ones you may have had no idea there was any connection to whatever is revealed. It throws in a bit of an entertainment bonus naming celebrities you might conceivably have an extended relationship to.

And though some might not consider it to be data they really want to claim, they also provide the percentage of your DNA that is of Neanderthal derivation. And how many people are aware that each of us has such a derivation representing between 2% to 3% of our DNA?

Because 23andMe is an American laboratory it falls under the control of the FDA which expressed unease that such a company was performing medical diagnoses without legal authority. That the company could assess health overview in risk of acquiring gout, macular degeneration, Type 2 diabetes, breast cancer, colorectal cancer, Crohn's disease, lupus, multiple sclerosis, as well as many other conditions, appeared to the FDA to risk people choosing to undergo unneeded medical treatment.

"When we talk about something like diabetes or hypertension, we're talking about very complex diseases that occur for many reasons, and there are probably multiple genetic contributors. So when you're talking about risk for diabetes ... they might only be looking at one SNP (minuscule portion) in one gene, which is known to somehow play a role in diabetes", explained Dr. Christine Armour, clinical geneticist at the Children's Hospital of Eastern Ontario.

There are other genes that come into play, as well as lifestyle and family history. A single gene test is an incomplete test for predicting future medical conditions. "I think there's potentially useful information but I think you have to take it with a grain of salt in the context of your family history, your overall health. It's not an all-or-nothing kind of answer", explained Dr. Armour.

On the positive side of gleaning such information from a wide spectrum of individuals is discovering the markers for Parkinson's disease with the use of DNA samples from over ten thousand people with the condition. Enabling 23andMe to build a database of genetic information specific to Parkinson's disease, with the hope that eventually the database might help researchers to discover the causes of the disease.

And for some people, it's simple curiosity and a wish to know more about themselves, about what they have inherited in their physical and psychological makeup. "We always had an interest in who you're related to and where you came from" said Tim Patterson of Ottawa, a 23andMe client. "Then along came 23 and Me. For me that provides a certain level of comfort, to know a little bit more about where we came from. Maybe it's why people enjoy watching these shows on TV like Who Do You Think You Are? where these celebrities and different people find ancestors they didn't even know about."

"I guess some of these things from the medical side are interesting to look at but I would take them with a grain of salt ... I was interested more in the genealogy side", he explained. Adding that he can place no trust in the medical information given him by the lab through an examination of his DNA. Which concluded among other things that he will never develop psoriasis: "Well in fact I have psoriasis." And that he has a 45.7% chance to develop age-related macular degeneration.

At age 53, knowing he has a seven times the average chance of developing the condition he should be concerned, but he isn't, particularly. "And I go in and have my eyes checked and they say, 'Oh your eyes look great!'" He's far more taken with the opportunity to post his DNA publicly on the 23andMe website which acts like a Facebook site for genes. That posting allows for connections with a wider pool or like-minded people.

For him, it meant that he was able to "go into deeper time", to trace his lineage back to the British Isles, but not stopping there. His bloodlines were also traced to Finland and other countries. The exposure gave him contact with cousins he hadn't known existed, and it aided him in tracing the families back to common ancestors in previous centuries.

The downside of knowing one's health susceptibility to various types of life-altering illnesses is that knowing that information does one declare it to life or health insurers? What about one's employer? If, being in possession of troubling information about potential health problems, concerns are mentioned to the family doctor, who sends the patient out for a blood test to confirm something "and there, it's part of your medical record.

"It's documented and you can't pull it back,", cautioned Dr. Armour.

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