Angelina Jolie’s prophylactic double mastectomy following genetic screening which determined she is carrying a genetic mutation that made her susceptible to breast and ovarian cancer stirred a controversy in recent weeks. The issue of mandatory screening becomes a hotbed for breast cancer debates, whether it is safe and economically viable for everyone.
Breast cancer is a disease where breast cells become abnormal and multiply uncontrollably. The most common start out in cells lining the milk ducts while others start out in milk glands. Early stages of breast cancer have unnoticeable symptoms, but as they progress, signs include a thick mass in the breast, which changes its size and shape, tenderness; nipple discharges, dimpling or retraction or scaliness.
Variations of Breast Cancer
According to The Genetic Home Reference, BRCA1, BRCA2, CDH1, STK11, and TP5 3 can heighten the breast cancer risk. On the other hand, AR, ATM, BARD1, BRIP1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, and RAD51 are genes that are linked with breast cancer that develop when mutations build-up in critical genes. In Angelina Jolie’s case, the BRCA1 and BRCA2 are breast cancers that cluster in families that are linked with inherited mutations in certain genes related to hereditary breast cancer.
Cancerous tumors can spread into the bones, lungs, liver, or brain. Hereditary cancers are linked with gene mutation; they occur early, and are very likely to affect both breasts. About 5% to 10% of breast cancers are mutations in genes and are most common among ethnic and geographic groups, like Jews of Dutch, Norwegian, and Icelandic ancestry.
Jolie is carrying BRCA1, which is one out of five genetic mutations of breast cancer inherited and linked to ancient Jewish communities. About 2.5 percent of Jewish women and men carry these mutations, although it is also found in non Jews, like Angelina Jolie. Meaning, one out of nine women can have breast cancer in their lifetime according to Forbes.com. The controversy surrounding the mandatory genetic testing that Angelina Jolie had, has sparked questions if complementary counseling is necessary, notwithstanding the cost. Many also expressed concerns if such testing is harmful to health or not.
The good, bad, and ugly side of genetic screening
People who carry harmful genetic mutations can receive checkups and would be eligible for screening to detect early stage of cancer and other disorders. An individual may be subjected to preventative surgery leading to reduced cancer development and mortality. Those who undergo screening can have a better quality of life. Many medical experts, including the FDA admits that genetic testing is at its infancy. Furthermore, there are many limitations, as well as disadvantages you should be aware of.
Genetic alterations can run in the family, and it can lead to distressful family relation when someone has already developed certain cancers. For example, a family member may feel extremely anxious about genetic testing, and a positive test may create guilt about passing potentially harmful genetic alterations to their children. Then, there’s the issue of obtaining health and life insurance. However, many choose to undergo screening and medical checkups to make possible early cancer detection without knowing their genetic status.
Direct to consumer genetic testing is now growing in popularity, but it’s too expensive for many people not to mention the uncertainty of its accurateness. The Food and Drug Administration is scrutinizing the generic testing companies. Individuals may base their medical decision upon inaccurate or misunderstood results. Many may suffer from psychological harm and feel the dread about the health risks, according to Barbara J. Evans of Health Law & Policy Institute, University of Houston Law Center. People may pursue ill advised medical intervention.
Is Counseling Necessary?
The article published by Forbes yesterday expressed negative reaction towards the need for counseling as an accompaniment to genetic screening by the biotech companies Myriad and Genentech. These companies offer proprietary tests through physicians at higher prices than smaller companies. They also filed a petition to FDA in order to regulate competitors out of the market. The American Medical Association and some congressmen are expressing concerns about the negative psychological reaction, if patients have access to their genome and finding out that they are predisposed to a deadly disease.
The AMA believes that people cannot be trusted with direct access to their own DNA data. This is strong stance against the savvy physicians of the Health 2.0 movement, in the belief that in order to keep the costs down is to allow people to access their medical records, including their genome.
Written by: Janet Grace Ortigas