Fieingold: Whole Genome Sequencing advances expected for 2013

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Dr. Murray Feingold

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By Dr. Murray Feingold/Daily News Correspondent

GateHouse News Service

Posted Jan 01, 2013 @ 10:48 AM

Many medical advances will be taking place during the year 2013. But I anticipate the greatest advance and the one that will potentially have the most impact on your health, will be occurring in the field of Genetics.
As we start the new year, it is now possible, with a blood test, to determine every gene in your body. This is test is called Whole Genome Sequencing or WGS. During 2013, more WGS advances will be made. It wasn’t that long ago that WGS cost about $100,000. Today, it costs approximately $7,000 to $10,000, and the cost continues to decrease. The test is able to detect if a person has a genetic disease such as cystic fibrosis or breast cancer. But it also detects other abnormal genes. Unfortunately, at present, the significance of many of these abnormal genes, or mutations is unknown.
The test can reveal if you will develop certain types of cancers. For, example, the body contains tumor suppressor genes that suppress the development of cancer. At times, these tumor suppressor genes mutate and do not function properly. As a result, cancer takes place because it is no longer being suppressed.
Many ethical issues will also be raised. Should the geneticist inform the patient that he or she has four or five abnormal genes that may, or may not result in a serious illness? As a result of this test there will be an overload of genetic information — both good and bad.
The good is that with just one blood test a diagnosis can be made. Making a diagnosis is very important if treatment is available or preventative measures can be taken.
Although, today, treatment is frequently not available, exciting research in this area is taking place to find ways, through gene therapy, to correct gene mutations. A few genetic conditions have already been successfully treated with this method.
It is my view that Whole Genome Sequencing will revolutionize the diagnosis and treatment of most medical illnesses. However, this advancement presents many
unanswered questions and dilemmas that need to be addressed.
The year 2013 should be an exciting one as both the medical profession and society endeavor to determine the best way to utilize WGS.
Dr. Murray Feingold is the physician in chief of The Feingold Center for Children, medical editor of WBZ-TV and WBZ radio, and president of the Genesis Fund. The Genesis Fund is a nonprofit organization that funds the care of children born with birth defects, mental retardation and genetic diseases.