DNA Sequencing & Personal Genomics
The first printout of the human genome to be presented as a series of books, displayed in the 'Medicine Now' room at the Wellcome Collection, London. The 3.4 billion units of DNA code are transcribed into more than a hundred volumes, each a thousand pages long, in type so small as to be barely legible.
Three years ago, it cost one million dollars to get your genome sequenced. Soon the price could drop to less than a thousand. What a personal genetic analysis can reveal – and whether it's too much information for an individual to handle.
Guests
the fourth subject in the Personal Genome Project, assistant professor at the Duke University Institute for Genome Sciences and Policy, author of "Here is a Human Being: At the Dawn of Personal Genomics."
science writer, Editor-in-chief of "Bio-IT World" and the author of "The $1000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine."
professor of bioethics and philosophy, University of Pennsylvania



Comments
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I live in Saint Paul, Minnesota and want to hear your upcomming Medical DNA show. Which station, what day, what time?
bob.arens37@gmail.com
Personalized medicine using our own genetic profiles may be only helpful in instances in which the genetic causes of a disease are well understood. Predictions of risk are probabilistic. More than ten dozen genes have been implicated in autism. The precise fashion in which they affect the development of the disorder is unknown. How certain could a genome-based prediction of developing autism possibly be? How are we supposed to act on vague answers?
Read more here:
http://brainmindinst.blogspot.com/2008/07/autism-genes-revisited.html
Good Morning!
My husband and I each passed along a destructive gene to our son who now has a life threatening illness. We had no idea we had this gene and would probably have thought twice about having children if we had known. But how do we deal with our insurance company knowing what's in our genome?
Anne in Orlando
Both my children have a genetic disease with the same genetic mutation. Neither myself or husband tested postive for this gene mutation. This means it is a germline mosaicism. Does this full sequence genome test for germline mosaicism?
Good morning.
How do/will insurers treat genetic testing? I recently had an advanced lipid profile to find out whether I have a genetic propensity toward high cholesterol. The results led my doctor to recommend a different course of treatment than the treatment prior to the test. I recently received a notice from my insurance company that this type of test is considered "investigative" and therefore is not covered.
This points to one important problem with our healthcare system -- the emphasis on treatment and not prevention.
Thank you.
Hi all,
I participated in a bone marrow drive,the Caitlin registry,by taking a cheek swab.My insurance company was billed for 8000 dollars for unspecified tests.
I can't bring myself to recommend this to my friends due to the cost that apparently my insurance has agreed to cover.I also have concerns about priva cy and impact on insurance coverage going forward.How can I protect my privacy and use of information.This was done with the promise of anonymity
And the cost covered by insurance but I had no idea of extreme cost.
M
What was the reference to Hirschsprungs by one of your quests? My Grandson suffer from this.
Dianne, I understand being stunned by the father that wanted to remove the breast buds from his daughter in the event that she showed a genetic predisposition to breast cancer.
I'd like to draw your attention to the fact that mothers are deciding to remove the foreskin of their infant sons - an amputation of perfectly normally formed and healthy tissue - without the consent of the child. It's a permanant bodily modification done to a non consenting minor child.
It's a basic human right to maintain your own bodily integrity until such time that you as an individual are of age to grant consent. Proxy consent for preventative amputatiions is inappropriate and unethical.
About 6 percent of children born to married, non-divorced parents have a different father than the man married to their mother. That is, the mother had an affair. This is going to make genetic testing very interesting.
Diane,
I am a first-time poster, and since I heard this broadcast I wanted to comment on your comment about the dad who considered removing his daughter's breast-buds to eliminate/reduce her chance of getting breast cancer. Going on memory alone, I believe you called the very idea "unthinkable". Why should that be unthinkable? He wants to do everything in his power to stem an awful disease. I wish the parents of all the circumcised sons had had such noble intentions. They routinely have their sons penises mutilated(removing some of the most sensitive skin, permanently decreasing sexual pleasure), and the only "medical reason" they could possibly have is that it is easier to clean. Perhaps we should all have our ears removed at birth, those are more difficult to clean than an intact foreskin. At least that dad wanted to mutilate his daughter in a less physically damaging way; and let's not forget that he is trying to prevent cancer. One more thing, IF you don't think that circumcision is a big deal, ask a feminist about routine "female circumcision" in other countries(and be prepared for an earful.)
Karen,
Your last sentence says it all. I was surprised that someone else had the same issue/point as was going though my mind about that dad.
As dependable as DNA may seem, ALL historical information should also be weighed. I assisted Dr E.A. Foster with the now famous Jefferson-Hemings DNA Study and it "jumped track" when he tested a KNOWN carrier of both Jefferson and Hemings DNA, as claimed by the Eston Hemings family. They had always claimed descent from "A Jefferson uncle or nephew", a reference to TJ's much younger brother, Randolph and sons.
As Dr Foster's assistant, I immediately suggested to Dr Foster the need to inform Nature Journal of this since there would definitely be a match, and there was. He REFUSED and coordinated with Nature to concoct a FALSE headline, "Jefferson fathers slave's last child", a complete lie. Eston's family NEVER claimed descent from Thomas. For further details: www.tjheritage.org and www.jeffersondna.com. Read what 13 prominent scholars say on The Scholars Commission Report and the several books reviewed there.
Herb Barger
Jefferson Family Historian
Founder, Thomas Jefferson Heritage Society
301-292-2739
There is a difference between information and knowledge which is how I would characterize the viewpoints of the geneticist and the ethicist, respectively.