#blogelul — know

what might knowing change?

What does this (from a recent arti­cle in the For­ward) mean?

…aggres­sive pre­na­tal genet­ic test­ing has effec­tive­ly erad­i­cat­ed dev­as­tat­ing con­di­tions such as Tay-Sachs…

a friend knows

I asked my friend Jane Her­man who has the BRCA muta­tion why it is impor­tant to know.

I under­stand in your case, as an adult, know­ing you car­ry a BRCA muta­tion, you have a choice to make.

But, let’s say either:

  • You’re about to get mar­ried, or,
  • You’re about to have chil­dren, or
  • You’re already preg­nant…

what would “know­ing” do to change your behav­ior?

I am aware of at least one cou­ple that did not have them­selves test­ed for what­ev­er genet­ic dis­eases they might be car­ry­ing because they had already decid­ed that they would car­ry the child to term.

In her usu­al, high­ly thought­ful and deeply felt man­ner, she respond­ed:

These are the very tough and emo­tion­al ques­tions that many of my younger BRCA sis­ters deal with all the time. Although I can­not speak to the Jew­ish genet­ic dis­eases that cou­ples get test­ed for (BRCA muta­tion test­ing is not among them), I can tell you a bit about why some peo­ple choose to find out about their BRCA sta­tus as young adults.

1. Because one of the hall­marks of BRCA relat­ed can­cers is ear­ly onset (although that is not the case in my fam­i­ly: my aunt was diag­nosed with BC at 68, my moth­er at 76, and their father in his late 80s with prostate can­cer), sur­veil­lance, too, begins ear­ly, gen­er­al­ly at age 25 — both for those who know their BRCA sta­tus and for those who do not, but whose fam­i­ly his­to­ry includes hered­i­tary can­cer. In an ide­al world, my sis­ter and I would have begun sur­veil­lance at 25, but in my case that was in 1988, before the BRCA genes had been iden­ti­fied.

2. Advances in can­cer genet­ics are mov­ing at light­ning speed and some­thing called pre-implan­ta­tion genet­ic diag­no­sis (PIGD) is now pos­si­ble for cou­ples where one of the part­ners has a BRCA muta­tion. I’m not a sci­en­tist, but basi­cal­ly embryos are cre­at­ed out­side the mother’s body (using the mother’s eggs and the father’s sperm), they are test­ed for the pres­ence of the known BRCA muta­tion, and only those that do not include the muta­tion are implant­ed. Chil­dren from such a pro­ce­dure are spared the need to test and deal with the poten­tial con­se­quences of being BRCA pos­i­tive. (I do not know if any of the costs asso­ci­at­ed with this pro­ce­dure are cov­ered by insur­ance.) Giv­en the rate at which advances are being made in this field, we’re all hope­ful that the younger gen­er­a­tion of muta­tion car­ri­ers will have bet­ter options than we do (which are bet­ter than those avail­able to our moth­ers, grand­moth­ers and tantes) and that even­tu­al­ly, gene repair and oth­er sci­en­tif­ic break­throughs will become a real­i­ty, not just for BRCA car­ri­ers, but for all types of can­cer and oth­er dis­eases, too.

3. It is pos­si­ble to extract and freeze eggs for lat­er use so that a woman can have an oophorec­to­my by age 40. It is rec­om­mend­ed that BRCA pos­i­tive women do so by this age because remov­ing the ovaries (and thus the estro­gen upon which some breast can­cer tumors feed) by 40 also can decrease her risk of breast can­cer by 50%. How­ev­er, the via­bil­i­ty of embryos cre­at­ed using frozen eggs gen­er­al­ly is not as good as those cre­at­ed using “fresh” eggs. Nonethe­less, I know of a few women in their late 30s and ear­ly 40s with­out part­ners who have cho­sen this very expen­sive and not-cov­ered-by-insur­ance option.

4. Some ear­ly research now indi­cates that ovar­i­an can­cer actu­al­ly begins in the fal­lop­i­an tubes and some sur­geons will remove just a woman’s fal­lop­i­an tubes, which pre­serves her fer­til­i­ty. This research is pre­lim­i­nary, how­ev­er, and long term effec­tive­ness in pre­vent­ing ovar­i­an can­cer is not known. In addi­tion, because fer­til­i­ty is main­tained, unlike an oophorec­to­my, I don’t think that fal­lop­i­an-tube-only surgery reduces a young woman’s risk of breast can­cer because estro­gen still is present in her body.

5. Every­one comes to the BRCA table with their own ques­tions and bag­gage based on where they are in their lives and their own fam­i­ly his­to­ry. In some fam­i­lies, ovar­i­an can­cer prevails…in oth­er fam­i­lies it is breast can­cer. In some fam­i­lies, it is both. It is a tough place to be and each per­son takes a dif­fer­ent path to the deci­sions that are right for her. Some women have mas­tec­tomies pri­or to hav­ing chil­dren, decid­ing that it’s bet­ter to give up the abil­i­ty to breast­feed know­ing that they’ll be around to watch their chil­dren grow up. Oth­ers com­plete their fam­i­lies quick­ly so that they can move on to the pro­phy­lac­tic surg­eries, while still oth­ers opt for sur­veil­lance for years and years, and don’t ever have surgery. Some remove their ovaries and not their breasts, oth­ers do just the oppo­site.

continuing the conversation

I com­ment­ed:

It seems that with this pro­ce­dure we are work­ing at “breed­ing the gene out of exis­tence”:

pre-implan­ta­tion genet­ic diag­no­sis (PIGD) is now pos­si­ble for cou­ples where one of the part­ners has a BRCA muta­tion. I’m not a sci­en­tist, but basi­cal­ly embryos are cre­at­ed out­side the mother’s body (using the mother’s eggs and the father’s sperm), they are test­ed for the pres­ence of the known BRCA muta­tion, and only those that do not include the muta­tion are implant­ed. Chil­dren from such a pro­ce­dure are spared the need to test and deal with the poten­tial con­se­quences of being BRCA pos­i­tive.

to know or not to know

That is the ques­tion.

In either case: know­ing, or not know­ing affects our actions. As Jane wrote on her Reform Judaism post linked-to above:

…[there] will be com­mu­ni­ty-wide, open-to-the-pub­lic BRCA aware­ness pro­grams lat­er this fall that will fea­ture rab­bis, oncol­o­gists, research sci­en­tists, genet­ic coun­selors, muta­tion car­ri­ers, sup­port and advo­ca­cy groups, and oth­ers at syn­a­gogues in four U.S. cities:

Pre­sum­ing that I car­ry out my own Elul work well (and why wouldn’t I?!), syn­a­gogue staff in New York City short­ly will be adding “Hang BRCA aware­ness posters” to their already-long list of essen­tial tasks to be com­plet­ed to pre­pare for the Days of Awe.

You too, can know.

now, i know.

now, i know.

Date: 2000s
Size: 3.8
Pin Form: clasp
Print Method: cel­lu­loid
Text Pro­tect­ing Future Gen­er­a­tions

Now,
I know.

www.JewishGeneticDiseases.org

your lapel buttons

Many peo­ple have lapel but­tons. They may be attached to a favorite hat or jack­et you no longer wear, or poked into a cork-board on your wall. If you have any lay­ing around that you do not feel emo­tion­al­ly attached to, please let me know. I pre­serve these for the Jew­ish peo­ple. At some point they will all go to an appro­pri­ate muse­um. You can see all the but­tons shared to date.

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