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Anyone who watches House, M.D. knows that the perpetually cranky Gregory House frequently scolds his minions for not getting “a complete history” on all their patients. As the plotline progresses it is often one seemingly insignificant piece of information that enables House to solve the case and, usually, save a life.
Knowing as much as possible about your own medical history, and sharing it with your physician, could have an important effect on you and your family one day. To make the picture as complete as possible, why not go back a lot further than your vaccination records? Consider tracing your own Medical Family Tree. It can be a fascinating search and a complex scientific journey.
Know Your DNA
A decade ago the ability to predict whether your child could have cystic fi osis or asthma, even before he/she was conceived, may have seemed more like something from a science fiction film than reality. Today, however, almost nine years after the completion of the Human Genome Project (HGP), genetic counselors stand ready to help predict you and your family's medical future.
The HGP, the research program that maps all the genes of human beings (our “genome”), provided a blueprint of sorts, for healthcare providers to treat and prevent disease. Now, with the help of certified genetic counselors (CGS), average people can take a proactive role in possibly preventing, treating, or curing genetic diseases by mapping their medical family history.
Even without scientific testing, however, you can still gain valuable information. A little investigating might reveal patterns of disorders among our relatives, for instance, because families often share not only genes but similar environments and lifestyles.
Because of these shared factors, a family medical history can determine increased risk for common disorders like heart disease, diabetes, and cancer, to name a few. Also, if research uncovers a history of rare diseases such as sickle cell anemia (a blood disorder) or narcolepsy (a sleep disorder), then there are certainly increased risks to your family for these diseases and may require increased vigilance.
It is because of the potential to reduce complications from disease by being aware of genetic patterns that the federal government (the Centers for Disease Control and Prevention, the Department of Health & Human Services, the National Institutes of Health) and organizations such as the American Medical Association recommend keeping detailed and up-to-date records of our medical family history.
Be Your Own Medical Detective
The National Society of Genetic Counselors website (www.nsgc.org) provides detailed information on how to go about creating a medical family tree. The NSGC suggests doing the following:
• Start by speaking with living parents and older relatives. Discussing medical histories can be a sensitive topic for some, but whatever information you are able to obtain may be of value.
• Create a family tree to find relatives you may not know who can provide more medical information. Search “genealogy” on the web, and find medical records and birth and death certificates by searching online databases like the one found at familysearch.org, a free site fueled by the meticulous recordkeeping of the Church of Jesus Christ of Latter-day Saints.
• Along with each relation, include age and cause of death (if deceased), and any illnesses (high blood pressure, alcoholism); medical incidents (i.e., heart attacks); birth defects (spina bifida, etc.); learning problems; handicaps (such as vision/hearing loss), along with when they developed these problems and what lifestyle choices (smoking, diet/exercise habits) that may be related.
The NSGC recommends updating this information yearly or whenever a change occurs. This vital record of your medical family history can be shared with your physician, and, if concerned, a genetic counselor can be sought.
So, at the next family wedding you attend, you may want to spend a little extra time mingling while you get names and phone numbers for future sleuthing.
Genetic Testing
After finding a rare disorder in your medical family tree, the next step might be genetic testing—the analysis of human DNA or certain metabolites to detect alterations associated with inherited disorders. Blood samples, newborn heel sticks, buccal (mouth) swabs, skin/organ biopsies, and prenatal samples (amniotic fluid tests) are all sources for genetic testing. Your doctor and/or genetic counselor can determine the appropriate test for you. A comprehensive look at genetic testing can be found at www.genetests.org, a website sponsored by the National Center for Biotechnology Information (NCBI).
Web Tools
Thanks to government and private sector interest in genetic forecasting much of the information needed for using genetics to map our medical history can be found online. The following websites are helpful resources for mapping your medical history:
• “My Family Health Portrait” is a web tool from the surgeon general, https://familyhistory.hhs.gov/fhh-web/home.action. Enter, save, print, and share health history using this tool.
• Find genetic counselors at www.nsgc.org; gene clinics at www.geneclinics.org; and info on medical conditions and support groups at www.geneticalliance.org.
• Genome.gov provides links to almost everything you need to know to prepare your medical history, including information on genetic testing and diseases.
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