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Doctors warn that easier access to DNA testing kits has big health implications

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RICHMOND, Va. (WTVR) - It's one of the first questions you are asked when seen by a new doctor, "What is your family health history?"

An easy enough question for people who grew up knowing their biological mother and father.  A frustrating and sometimes scary question for those who did not.

People like Jordan Nagle.

Jordan was born in South Korea and came to the United States when he and his brother were adopted.

“I remember some of the events," he said. "I remember being held and hugged and kissed all over."

His memories of his biological parents are not as vivid.

While his new parents received papers detailing aspects of Jordan's childhood, they were not given information about his family's health history.

A fact that hit home once he had a child of his own.

"We had a scare when he [his son] was about a year old with a heart condition. That kind of made us nervous because we didn’t know any of my history," Jordan recalled.

With another baby on the way, Jordan and his wife hope a genetic testing service called "23 and me" could provide some insight.

On the market since 2006, the kit is designed to tell you a variety of things based on your DNA. Things like if you have an elevated or decreased risk for Alzheimer's disease or breast cancer, whether you are at risk for high blood pressure, even if you have an increased chance of developing freckles.

A company spokeswoman said as testing kits have grown in popularity, they've shrunk in price. The kit, which once cost nearly $1,000, now sells for $99.

While the kit may seem like the answer to all of Jordan's problems, some doctors urge people interested in testing their DNA to use caution.

Dr. John Quillin, a genetic counselor at the VCU Massey Cancer Center said "23 and Me" may be convenient for people looking for answers, however he said there are certain things to look out for when taking a test.

"A big piece is making sure before you send in a sample that you are evaluating what you're getting out of the testing," said Dr. Quillin.

Dr. Quillin said there are a number of ways to determine if any kind of medical test is a good one.

"Of the genes that the test kit is looking for, how often will it find something going on? How technically accurate is it?" he said.

Quillin also adds that there could be some ethical implications.

"Could someone misinterpret a positive test result as meaning more than it really does?" he said.

CBS 6 brought some of the questions about the test to a spokeswoman for "23 and Me"

Kendra Cassilo told CBS 6's Chelsea Rarrick that the test is not designed to be a self diagnosis for those who take it.

She said results showing a high or low risk factor can help how you care for yourself, but in no way is it conclusive.

Ultimately, she said it's designed to serve as a guide.

Dr. Quillin agrees, but recommends users should take it one step further.

"Anyone who is using a DNA test kit, if there is an option to involve a health care provider even if it's in that company, that they take advantage of that," he said.

And while Jordan waits for his results, he says he'll continue to rely on his faith and the support he gets from the family he does know.

CBS 6 plans to follow up with Jordan after getting his results in a few weeks.

Hear their concerns Thursday on the CBS 6 News at 11.

1 Comment

  • Michael Pollock

    In this report, a doctor interviewed as part of the same said an MD should be involved with any assessment of what is revealed. I strongly disagree with that.

    As a forensic genealogist who has testified in Court as an expert witness on genealogy, my primarily familiarity with the kits sold by 23AndMe and its competitors is in their use to confirm or refute relationships that cannot be “proven” by a “paper trail”, I was also a friend of James Blair Lovell, the individual perhaps most responsible for the present popularity of such tests, as he had the DNA of Anna Mannahan tested to determine if she was, as she claimed, actually the Russian Grand Duchess Anastatia. Regrettably, James himself died before those results were known, but with my having been a PhD candidate in Russian Area Studies at Georgetown, as well as a forensic genealogist, I have never been completely convinced that Anna Mannahan was not truly Anastatia–she knew too many details that were not common knowledge some of those Romanovs and their retinue of servants who survived acknowledged as true, though it is certainly possible she was a child of a Romanov servant rather than Anastatia herself.

    Thus, I am not predisposed to accepting DNA testing results as “gospel” and while I have worked with multiple clients who have used such testing, I have NEVER referred a client to 23AndMe, even though I do know people in that company, or one of its competitors.
    Even before such testing was even available–I’ve been a professional genealogist since 1974, a number of clients acknowledged to me that determining if they were either at risk of a specific genetic disease or if a disease they did have was genetic rather than environmental was largely the motivation for having me do their genealogy.

    When DNA is involved in a genealogy study, the process requires, among other things, noting: 1)with whom else one shares a particular kinship match; 2)to what extent THOSE kinship matches can actually be documented by a credible “paper trail”; and 3)the frequency with which those sharing the kinship match have not just a documented family history of a particular disease, but a history that cannot be otherwise attributed to another ancestral line that is shared by some, but not with the specific individual who is being assessed for the risk.

    Any given gene can be the result not just of a common donor, but even different donors if not a mutation that is “unique” to an individual.

    Any chance of making such a determination requires doing genealogical studies far beyond what is typically undertaken as the overwhelming majority of those who conduct such studies focus strictly upon their surname, ignoring the maternal lines even in the earlier generations of the father’s ancestry, and is complicated by the fact that the paper trail to document relationships is not always accurate due to: 1)adoptions (the identity of the parents are falsified BY THE GOVERNMENT to “protect” the identity of the birth parents); 2)stigma (not wanting to acknowledge a birth to be illegitimate); 3)ignorance (information on a death certificate, for example, being reported by someone who never knew the parents of the deceased); 4)trauma (one does not always think clearly in life and death situations involving those to whom one is close); 5)clerical errors, etc., if the records even exist–though Virginia began to keep death certificates in 1853, except for a few cities, there are NO DEATHS RECORDED between 1896 and 1911 because the law authorizing the records was allowed to lapse, and between 1853 and 1896 one had to pay a recording fee when reporting a death while there was no fine or jail sentence imposed on those who did not report a death. I should also note that whether an adoption was involved or not, it did not become routine for Court approval of a name of one’s name be sought, must less required, until approximately 1935.

    I cannot hold out much help for the individual who was the specific focus of this story given he is of Korean ancestry. I have no experience in Korean genealogy, but understand that what traditionally existed was largely oral rather than written, and the preservation of such records, whether oral or written, has been actively discouraged in the Communist north. Thus, any chances of success is apt to be dependent upon at least one close relative, no more distant than second cousin, first having taken the same test, which seems unlikely, and second, having enough knowledge of the extended family to be able to confirm stories of a child being adopted out of the family fitting the circumstances of this individual.

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