Updated December 05, 2014.

According to the NIH, “In April, 2003, the International Human Genome Sequencing Consortium is announcing an essentially finished version of the human genome sequence. This version, which is available to the public, provides nearly all the information needed to do research using the whole genome.”

In case you haven't heard, the Human Genome Project was pretty successful.  It came in ahead of schedule and on budget.


  Researchers pooled resources and worked together like never before.  Advances in technology helped humanity bring home a win.  The NIH’s National Human Genome Research Institute then made the entire genome--all 3 billion base pairs—public.

So now all of man’s DNA is freely accessible for further research and development.  Magnanimously, the NIH strongly encourages and pledges its support for such efforts.   (The Human Genome Project lives on!) Therefore, during the past few years we’ve seen major advances in the field of genetic testing such as exome sequencing which quickly examines the coding sequences of our DNA.  However, all this information means less if people are uncomfortable using it.  Therefore, the field of genetic counseling is galloping to keep up with advances in genetic technology.

 

What is genetic counseling?

 

Current standard of care recommends that if you or child is about to receive genetic testing, you guys should also receive genetic counseling.  However, with the development and dissemination of more types of routine genetic testing like testing for prothrombin thrombophilia and single-platform tests (which may test for a multitude of disease types), it’s unlikely that your physician will discuss every test with you.

  Nevertheless, especially in the case of some specialized order, like when a test is ordered to confirm suspicion of a disease, then genetic testing should take place.

The keystone of genetic testing is informed consent.  In order to obtain informed consent and proceed with testing, you must be counseled on the following:

• nature of the condition (disease)
• mode of inheritance
• risk of the condition in the person being tested and her relatives
• natural history of the condition
• prognosis
• risks, benefits and limitations of test options
• risks, benefits and limitations of possible interventions
• social and familial implications of testing
• the voluntary nature of genetic testing

As you can probably imagine, in the case of troubling results, very important counseling takes after a test.  Specifically, after testing, you should be counseled on the following: 

• the meaning of results
• possible need for additional testing
• meaning of additional testing
• risks for other family members
• (if needed) treatment and management

 

News of genetic disease can be hard to bear, and under such circumstances, guilt, sadness, and anger are all normal responses.  Keep in mind that it’s important that you discuss any symptoms of depression or anxiety with a health care provider.  Most importantly, tell someone if you feel that you may harm either yourself or others.  Help when dealing with troublesome news is always in reach whether it be a mental health professional or support group.  Even if you test negative for genetic disease, but you have family members at risk, a support group may be a good idea.

On a final note, you should never feel rushed or confused during genetic testing.  If you ever feel like you need more information or further clarification, ask your physician.  Often, a few pamphlets given to you may contain useful information, but your physician is a personal resource who should be attentive to your concerns.  Of note, with continued advances in the fields of genetics and genetic testing, more health care professionals will be ordering such tests, and counseling will likely come from a variety of sources: genetic specialists, genetic counselors, primary care physicians, mid-level providers and so forth.  Keep in mind that, looking forward, the quality of counseling will matter more than who gives it.   

 

Selected Sources

 

Feero W. Chapter 47. Genetics for Family Physicians. In: South-Paul JE, Matheny SC, Lewis EL. eds. CURRENT Diagnosis & Treatment in Family Medicine, 3e. New York, NY: McGraw-Hill; 2011. Accessed November 22, 2014.

Kennelly PJ, Rodwell VW. Chapter 10. Bioinformatics & Computational Biology. In: Murray RK, Bender DA, Botham KM, Kennelly PJ, Rodwell VW, Weil P. eds. Harper's Illustrated Biochemistry, 29e. New York, NY: McGraw-Hill; 2012. Accessed November 24, 2014.

http://www.genome.gov/11006943