Genetic Testing Predictive

Doctors say one of the best predictors of people’s future health is their family histories. If someone in the family suffers from an inherited disease, odds are likely that their relatives may possess the same genetic mutation for the disease.

Doctors once had to rely on patient reports for family history. Today’s scientists are trying to eliminate a lot of the guesswork in a person’s medical history. Through predictive testing, people can know for certain whether or not they carry genes that increase the risk for inherited diseases. Use of predictive genetic testing has, however, caused a number of ethical concerns for scientists and the health care community alike.

Predictive Testing

DNA genetic testing is a medical analysis of a person’s blood, skin or hair sample. In some cases, doctors will obtain a sample with a cotton swab from the inside of a person’s mouth. Using advanced technology, scientists are able to search and study the DNA sample for genetic mutations that might lead to disease. If a person tests positive for a mutated gene, the risk is higher for disease development.

Why Receive Genetic Testing

Genetic testing is most commonly used when a couple is deciding upon their reproductive options. When parents have high risks of inherited diseases, they often choose to explore alternative options to expand their family.

DNA genetic testing can also be used for many other reasons. Doctors who struggle to identify a patient’s symptoms might suggest predictive genetic testing to help with diagnosis. Testing for genetic mutations can also help doctors determine which type of treatment to recommend. These tests can help identify and treat diseases before they become difficult for patients to manage.

Types of Predictive Testing

DNA genetic testing is able to identify genetic mutations for a wide variety of inherited diseases, including

  • Alzheimer’s disease
  • breast cancer
  • colorectal cancer
  • haemochromatosos
  • Huntington’s disease
  • multiple endocrine neoplasia type 2
  • ovarian cancer
  • sickle cell disease.

Currently, scientists use predictive testing for a number of reasons, such as carrier testing and prenatal testing of fetal cells. These purposes bring up a number of ethical questions, including the possibility of using genetic testing to create ‘designer babies.’

Risks of Genetic Testing

Of course, there are some risks that are associated with genetic testing. While scientists are still experimenting with the tests, results often have some levels of uncertainty. Many are accurate; however, there is still a small chance of error.

One of the topics with the most concerns is the ethics of releasing this information. In some cases, parents choose to abort a pregnancy if the child is found to have inherited a disease. Adults with positive results have been exposed to discrimination from employers, insurance companies and society. In addition, some patients test positive for incurable diseases, which can cause patients to lose hope for a healthy life.

Predictive Genetic Testing in the Future

As of now, scientists have three main ways to conduct DNA genetic testing:

  • fluorescent in situ hybridization
  • henotypic
  • karyotype analysis.

They work through discovering genetic variations in proteins, protein enzyme activity or chromosomes.

There is new technology developing that will allow scientists to conduct testing with tandem mess spectrometry or DNA chips.

While predictive testing for diseases in adults and newborns is a controversial topic, many scientists and health care professionals agree this type of testing can be useful in pharmacogenetics. With this medical breakthrough, physicians would be able to test patients’ responses to certain medications. The health care community hopes this would lead to individualized medicine, a type of treatment that can assess a patient’s risk for genetic diseases, side effects to certain medications and vulnerability to outside factors.


Burke, Wylie, James P. Evans and Cecile Skrzynia (2001). The complexities of predictive genetic testing. Retrieved September 21, 2008, from the BMJ Web site:

McAnally, Kathy (2008). Predictive genetic testing: Do you really want to know your future? Retrieved September 21, 2008, from the DNA Files Web site:

New York State Department of Health (2001). Genetic testing and screening in the age of genomic medicine. Retrieved September 21, 2008, from the New York State Web site: