What’s in Your Genes?

I absolutely hated studying biology back in the ninth grade. The entire class eluded me. I don’t remember whether I didn’t click with the teacher, was panicked by the idea of dissecting a frog, or simply couldn’t grasp the concepts. Either way, I never was able to embrace learning about the various forms or indications of life on our planet. And even today, when I look up “Biology” on Wikipedia, I can’t comfortably discuss the extent of the scientific fact that: “Biology generally recognizes the cell as the basic unit of life, genes as the basic unit of heredity, and evolution as the engine that propels the synthesis and creation of new species.”

I do comprehend, however, a little bit about genes – genetics – thanks to the birth of my children. Many of the physical traits that are seen in them were clearly inherited from my husband, me, and/or someone else in our family lines. My daughter’s blue eyes are my sister’s; my son’s hazel ones are my husband’s. Their body and blood types are my husband’s. The dimple in my son’s right cheek is mine – from my father’s side of the family. As such, I get the idea that “Genes are the primary units of inheritance in all organisms.”

Unfortunately, we can’t always see – and don’t necessarily know about – the general genetic traits of all humans or the specific ones we inherit from our parents, grandparents, or great-grandparents. Even more confusing and sometimes scary is the notion that some of these genes mutate over time – particularly in tight-knit ethnic groups – potentially causing illnesses or diseases.

For example, there now are nineteen specific genetic disorders that are seen predominantly in the Ashkenazi (Eastern European) Jewish population over the general one. Moreover, it is estimated that one in five of these Jews is a carrier; how or why this mutation occurred is unknown. It, therefore, is recommended that all Ashkenazi Jewish individuals go through a complete genetic screening prior to having children.

But there’s more…

Back in May, Angelina Jolie made the news by revealing that she voluntarily had undergone a double mastectomy to prevent the possibility of contracting breast cancer. Her decision was made upon learning through genetic testing that she had a mutation in one of her BRCA genes. Women who carry a mutated BRCA gene are five times more likely to contract breast cancer and twenty-plus times more likely to be diagnosed with ovarian cancer than women who don’t carry the mutation. (Angie’s mother died a few years ago at the age of fifty-six from ovarian cancer and her aunt – her mother’s younger sister – died of breast cancer shortly after she had her surgery.)

Women of Ashkenazi Jewish descent have demonstrated an increased risk of carrying this mutation. They therefore may choose to be tested for the BRCA gene, especially if they have one or more relatives who “were diagnosed with the same kind of cancer (two breast cancers, two ovarian cancers, for example), a BRCA1 or BRCA2 mutation, breast or ovarian cancer before age 50, both breast and ovarian cancer, or male breast cancer.”[1] My mother is one of twenty-one female first cousins across her mother’s and father’s sides of the family. So far, six have tested positive for one of the BRCA gene mutations; three have passed away (without being tested) from some form of cancer; and the majority of the others are currently in the process of being tested.

Genetic counseling and testing are very individual and personal decisions. They cannot be taken lightly. Even more so, the decision to undergo preventative surgeries upon receiving a positive result for the BRCA mutation — or to do nothing — comes with tremendous risks and burdens.

While I didn’t do well in Biology, I’ve always done well in Math. I can calculate numbers, statistics, and odds. I’m a Jew of Ashkenazi descent. The BRCA gene mutation exists on my mother’s side of the family. My father’s mother (and a first cousin of his) had breast cancer too…

I can’t gamble. I never win in Vegas. It’s my turn to get tested.

7 thoughts on “What’s in Your Genes?

  1. I believe the numbers are 1 in 800 among the non-Jewish population as compared with 1 in 40 in the Jewish population. Two and a half percent likelihood doesn’t sound so bad, until we realize we are twenty times more likely to contract cancer than others.

    Like

  2. Good luck Cheri – let me know how it goes. I think you know I’m positive; surgery most likely in January/February. I’m here for you –
    Dianne

    Like

  3. Cheri, so glad you brought up this issue. My family has personal experience with BRCA1; our daughter tested positive after being diagnosed with DCIS (ductal cancer in situ) two years ago. Thank G-d she was Stage 0 and did not require chemo or radiation after her double mastectomy. She also chose to have her ovaries & tubes removed, although she desperately wanted to have a third child. My genetic testing was negative so we have to assume it came from her Dad’s line. The geneticist told me that with a BRCA mutation there is also a higher incidence of prostate cancer (Jack had it), stomach cancer and melanoma.

    Up until now there was only one lab in the US, Myriad Labs in Utah that had exclusive rights to genetic testing. They charged exorbitant rates (medicare would not cover it unless I was diagnosed). The supreme court recently ruled that a gene cannot be patented; this opens the way for other genetic laboratories to perform the tests.

    Wishing you Good Luck and courage to deal with whatever the outcome!

    Like

Please leave a reply!

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s