Genes are part of our bodies that contain biological information that parents pass to their children and determine the growth and development of cells. Individuals inherit half of their genetic information from their mother and half from their father.
These can determine such things as what features (genetic traits) a person inherits from his or her parents, such as blood type, hair color, eye color, and other characteristics, including risks of developing certain diseases. Certain changes in genes or chromosomes may cause defects in various body processes or functions.
If all genes are working smoothly and in order, our bodies develop and function as they should. However, if a single gene or even a tiny segment of a gene goes awry, the effect can be dramatic in terms of deformities and disease that sometimes can result in death.
In the past few decades new testing has allowed physicians to learn so much more about genes and how they work and how they are linked to disease. Tests for changes and mutations can now lead to identifying specific disorders already happening, but can also make it possible in some circumstances, to foresee diseases that may come in the future. Tests can be used to look for possible predispositions to disease as well as to confirm a suspected mutation in an individual or family.
Akron Children's Hospital, including its Boardman-based campus, offers genetic testing for children and adults, as well as those contemplating a pregnancy. In fact, Akron Children's Hospital has been designated a regional comprehensive genetic center by the Ohio Department of Health.
"What we do in genetic testing is split into several categories," said Catherine Ward Melzer, a clinical geneticist with the hospital. "We see pre-natal families, general or traditional patients, where we are able to provide an assessment to see if they (patient and family) have a genetic compromise that could indicate diseases or diagnoses such as Down syndrome, sickle-cell anemia, Marfan syndrome or cystic fibrosis. The other category is those grouped with a genetic disposition to cancer."
Ward Melzer said that one of the first things that a geneticist or a genetic counselor does is to sit with that individual and take a family and individual history, perform an examination and determine if testing is necessary. She said that there are many ethical questions than can come up in deciding if a person should be tested.
"There are some disorders that don't appear until a person is an adult, such as Huntington's disease," she said. "For such things as adult onset diseases, it is the right for someone when they get older to make the decision to get a test. We don't test children for adult onset diseases."
Ward Melzer cited an example that for cancers such as colon, ovarian and breast, doctors generally don't do any testing until the person gets to approximately 20 years of age.
"But," she admits, "this is an active debate. However, the general consensus is it that it is not a good idea to test for adult diseases in a child. The child should make the decision when they become an adult."
Gene testing involves examining a person's DNA taken from cells in a sample of blood, or occasionally from other body fluids or tissues. Testing looks for some anomaly that detects a disease or disorder. The change can be extremely large, such as a missing or added piece of a chromosome, or even an entire chromosome. It can also be small such as one extra, missing or altered chemical base, according to accessexcellence.org.
The most widespread type of genetic testing is newborn screening. Each year in the United States, four million infants have blood samples tested for abnormal or missing gene products.
Lately, much attention has been given to genetic testing that can identify inherited forms of breast, ovarian and colon cancers.
The High Risk Breast Program has been part of the Breast Care Center at West Penn Allegheny Health System in Pittsburgh for the past several years. The center sees women who are determined to be at risk for developing breast cancer. A joint program between Sharon Regional Health System and West Penn Allegheny Health System in Pittsburgh employs the knowledge and expertise of several board certified geneticists and genetic counselors several times a month at the Sharon hospital.
A woman's lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Genetic tests are available to check for BRCA1 and BRCA2 mutations. These women have an increased risk of developing these cancers at an early age (before menopause) and often have multiple, close family members who have been diagnosed with these diseases. However, not every woman who has harmful BRCA1 or 2 mutations will develop breast and/or ovarian cancer.
Colon cancer genetic testing can tell a person whether they carry rare changed or mutated genes that can cause colon cancer. Although most people who get colon cancer do not have one of these mutated genes, having them greatly increases the chance of getting this form of cancer.
No matter what the genetic test, physicians strongly urge and recommend genetic counseling, prior and after testing. The counseling should be performed by a healthcare professional that is preferably certified in this type of counseling.
Before testing, the counselors try to make sure that the person is mentally prepared to cope with the possibility of a positive test. If the person decides to go ahead with a test, a counselor helps that person and their families adjust to the test results and they arrange whatever prevention and screening measures are necessary.
"I often see a person before they become pregnant," said Jennifer Stein, a certified genetic counselor in cancer genetics, pediatrics and babies at Akron Children's Hospital. Because Akron Children's Hospital tests prenatal adults, children and adults, she sees all people in these categories for genetic counseling.
"I also see people concerning indications usually because a cancer has occurred earlier than expected, runs in a family or that some cancers run together," Stein said. "I access the whole family history and go over the benefits of genetic testing to them. I also talk about what the tests may mean to them. Education is the key in what genetic testing is and what the results truly mean."
, chief of cancer genetics and prevention at Allegheny General Hospital and associate chairman of the National Surgical Adjuvant Breast and Bowel Project agrees. "If you are doing genetic testing, it is a must to have genetic counseling. People are more stressed out than necessary with their test results if they do not have someone to interpret these tests and offer guidance. You can get a test result, but what does it mean? What should you do?"