Monday, August 3, 2009

Genetic Anomalies

Very few of us get the opportunity to speak with a genetic specialist, yet doing so can help prevent years of pain, and even give us the clarity of vision for our future health. In the last 18 years, genetic medicine has changed lives. Adopted children who have no contact with birth families can get a better idea of the medical history of their family tree. People who have parents with history of cancer can now treat far earlier. People deciding to be parents can determine if their genetic combination will lead to complications in a child's life, and therefore can decide to adopt instead. Prenatal care becomes a matter of less invasive procedures, also includes statistic genetic evidence of possible issues in the fetus. Those who are unsure as to why they are experiencing mental health issues now have a clue with the genetic tests that reveal a serotonin issue.

But, genetic testing isn't part of the normal medical screening done by family practices. For today's blog research, I've found there are no HMO's or PPO's that put "Genetic Testing" as part of the routine care for pregnant women. When people start to show signs of Alzheimer's, joint diseases, or even depression, there isn't an obvious step by physicians to screen for genetic anomalies. The cost is listed as too prohibitive. Yet, the dollars that health care systems can save simply by ruling out genetic illnesses, disorders, or even traits for future generations could mean millions saved in health care costs- per patient.

This week the National Institute of Health released information about a genetic factor found in those who are experiencing major long term depression. Millions of people aren't even treated for depression, and instead get misdiagnosed with other disorders because the symptoms of pain, lethargy, appetite change, sleep loss, and weight change can be traced to other illnesses. And, those who are actually suffering from Cushings Disease, Adrenal disorders, pituitary illnesses, and other disorders are often misdiagnosed with depression and mental health issues. Knowing the genetic marker for depression is a leap in proper diagnoses.

Genetic markers exist for Tay Sachs disease, Huntington's Chorea, Polycystic Kidney disease, Hemophelia, amongst other rare and not-so-rare disorders. Early detection can not only arm medical professionals with the tools needed to treat and heal, but the patient can be forewarned regarding any impending issues based on a genetic probability. And, testing for genetic markers can help to find out if patients have single gene issues, or polygenic disorders.

The single gene issues include Autosomal Dominant which means just one copy of the gene marker can create illness. One parent contributes to the issue. In the Autosomal Dominant marker, there is a 50% chance the child will inherit the problem. In Autosomal Recessive genetic marker, both parents must contribute a malformed genetic marker for a child to have an issue. Cystic Fibrosis is an example of Autosomal Recessive, and Huntington's Chorea is a Autosomal Dominant genetic failure. Knowing if a genetic marker is X and Y linked dominant and recessive in a single gene can help define if a male or a female will have the disorder. Muscular Distrophy and genetic male infertility is discovered via the X and Y linked markers.

Maternal Inheritance, found in Mitochondrial DNA, is a method of measuring issues mothers can pass on to embryos. This form of disorder is much less likely, and only exists in the rarest of genetic disorders. But, Polygenic issues can arise in many instances and can lead to the discovery of heart disease, cancers, diabetes, and other more common illnesses. The screening of polygenic failure can not only save lives, but again, millions of dollars in health care costs.

The Human Genome Project offers insight into thousands of issues that can be treated once found through genetic screening. However, there are not cures for all genetic disorders, and some issues don't even have known treatments. This raises the question of offering screenings to those who cannot be helped. Does the cost of the test include the fear that comes along with it? Do you warn a patient about impending illness if there isn't any way that the patient can help herself? Is there an ethical issue involved in these tests that counter the oath of "First Do No Harm"?

I am a patient of a genetic disorder. My parents showed no obvious signs of the joint condition that leaves me in a wheelchair or in unbearable pain. My grandfather on my mother's side has obvious signs of Marfan's Syndrome when you view his photographs. The clues include a sunken chest, tall lanky frame, and long spindly fingers and toes. He also died of a lung illness, battling the disease from the time he worked as a coal fueler on the railways as a young man. Although I didn't show severe issues until I was well into my 30's, knowing that I could help prevent some of the damage that results in my current condition could have been useful. In fact, years of misdiagnoses could have been averted all together.

With the NIH commenting this week on the discovery of the "depression gene", there is an upcoming event where hundreds of medical professionals will discuss the issue. The European College Of Neuropsychopharmacology meets in September in Turkey, and will discuss treatments options, genetic testing, and other key points in helping not only to treat but to cure mental illness and depression based on the genetic findings. A program at Louisiana State University will study issues with genetics and brain functions, primarily of depression, through a grant received in the last two weeks. There is hope that the knowledge will lead to a cure.

Today's questions- Have you ever undergone genetic testing? What do you feel is the best use of Genetic Testing? Could you see medical organizations adding this as a preventive measure for patients? Do you feel the costs of knowledge outweigh the price of the test?


  1. I have a grandson who suddenly showed signs of mental illness at age 18. For the past seven years, he's been in and out of psychiatric wards with little or no serious assessment. (He was hit by a car at age 2 and had a very bad head injury and disfigurement, which I believe caused some brain damage.)

    He has a grand-uncle who devolved into mental illness in his twenties. A genetic connection? Not sure. But, it's interesting to consider.

    I have mixed feelings about what genetic testing might show. Don't know whether or not I want to know what's possibly/probably down the road.

    But discussion and knowledge can help eliminate uninformed opinions.

    Thanks, Wista

  2. Thanks for that Wista... it's going to be an interesting conference this September, and I hope that some resolve is found. Not all mental illness is supposed to be genetic, but if it can lead to a cure, or at least a treatment, I'm for testing.

  3. I think knowledge is power. My personal opinion of genetic testing is solely on the issue of Down Syndrome since I have two siblings with it. I believe that some 'diseases', while absolutely a struggle, have unforseen 'benefits' - again I'm specifically talking about DS. But for anyone with doubts for any reason, especially for major issues, the more you know, the more power you have to decide how to deal with it.


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