Genetic Mapping – Coming soon to a Doctor’s Office near You

Genes are the roadmap to the past, present and future. As scientists slowly unravel the genetic code and discover ways to make it less complex and more accessible to medical care, you can look forward to knowing more about the state of your future health in the present.

Currently, a complete genetic map will cost you about $3,000, but in the not too distant future, your doctor will be able to give you a full genetic reading for a little more than a grand – about the same as the cost of an MRI. As trials continue to uncover more and more predictors of disease wrapped up in your genetic code – and prevention strategies for each – 25,000 gene codes have become almost fully understood.

Geneticists caution patients and doctors to understand one important fact regarding genetic testing and positive indicators for disease – mapping determines risk, there is no guarantee that a patient will develop a disease. The benefits of genetic mapping can help many people make lifestyle changes to lower their risk.

Last Tuesday, the Wall Street Journal featured nine, broken by the necessity of action for prevention:

Most genetic experts believe that knowledge of these three conditions can help patients build a plan for prevention:

  • BRCA1 and BRCA2: breast and ovarian cancers
  • MLH1 and MSH1: Lynch syndrome (increases your risk of colon and other cancers)
  • FBN1: Marfan syndrome, a disease that negatively affects the connective tissues

Regarding these conditions, geneticists recommend that doctors discuss these with patients prior to testing – only if the patient agrees that they desire to know about the potential of disease development and the stress that comes with the lack of treatment for the disease:

  • APOE: Alzheimer’s disease
  • SOD1: ALS or Lou Gehrig’s disease
  • PRNP: prion diseases (progressive neurodegenerative disorders)

The value in knowing about the potential to develop these conditions is debated by most geneticists:

  • FMR1: Fragile X syndrome (a condition linked to intellectual disability)
  • F5: this gene causes an increase in the risk for blood clots
  • CFTR: If both parents contribute this gene, the odds of their child developing cystic fibrosis is highly probable

Other families have found genetic mapping to be a less expensive alternative to seeing specialist after specialist in an attempt to determine what is wrong with their child. While many disease are incurable, knowing can help with coping.

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2 comments

  1. Very interesting yet very scary. This would just give me something else to worry about. Kind of like predicting the future.

  2. I agree – there is a lot of research going into the psychological impact this information might have on patients. Although I believe it is a valuable tool for diseases that we can do something about, like breast cancer, I do hope the psychological research continues and is solidified before this method of practice is widely used. Seeing into the future can definitely have serious implications.

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