CDI Miami | Tuesday February 2, 2016

The Importance of Genetic Testing

dnaGenetic testing can be both informative as well as an effective preventative method by locating specific pre-cursors to disease: genomic bio-markers. According to the U.S. National Library of Medicine, “Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.”

Three of the most well-known abnormal genes are BRCA1, BRCA2, and PALB2. Women and men who inherit a mutation, or abnormal change, in any of these genes have a much higher-than-average risk of developing breast cancer and ovarian or prostate cancer.

Although effective for treatment and preventative medicine, genetic testing can have its drawbacks. Sometimes, having the foreknowledge of disease predispositions can be anxiety provoking.  For example: because genetic alterations need to be identified in a family member who already has cancer, this can lead to distressing family relations, as an individual may not want to undergo genetic testing, and/or possibly feel guilty about passing on a negative gene alteration to their children. Other possibilities include ‘survivor guilt,’ wherein some siblings do not possess the affected trait, leading to a sense of guilt that they escaped the increased cancer risk, while their sibling is still at risk.

In addition to genetic testing, yearly mammograms plus breast MRI screening are typically recommended for women with greater genetic risk of developing breast cancer. The American Cancer Society (ACS) recommends that all high-risk women – those with a greater than 20% lifetime risk of breast cancer – have a breast MRI and a mammogram every year. According to ACS guidelines, high-risk women include those who:

• have a known BRCA1 or BRCA2 gene mutation

• have a first-degree relative (mother, father, brother, sister, or child) with a BRCA1 or BRCA2 gene mutation and have not had genetic testing themselves

• find out they have a lifetime risk of breast cancer of 20-25% or greater, according to risk assessment tools that are based mainly on family history

• had radiation therapy to the chest for another type of cancer, such as Hodgkin’s disease, when they were between the ages of 10 and 30 years

• have a genetic disease such as Li-Fraumeni syndrome, Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, or have one of these syndromes in first-degree relatives

For Women with a slightly diminished level of risk – between 15-20%, The American Cancer Society recommends the following:
• find out they have a lifetime risk of breast cancer of 15-20%, according to risk assessment tools based mainly on family history

• have a personal history of breast cancer, ductal carcinoma in situ (DCIS), lobular carcinoma in situ (LCIS), or abnormal breast cell changes such as atypical ductal hyperplasia or atypical lobular hyperplasia

• have extremely dense breasts or unevenly dense breasts when viewed by mammograms

If you think you are a candidate for breast screening, talk to your doctor. Then call CBCC. With three location throughout Miami, you can select which location for your screening that works best for you.