Genetic Counseling

First philly.com Post

I’m excited to announce that I’ve been asked to be a regular blogger for the Philadelphia Inquirer’s new “Diagnosis: Cancer” blog. My first post appeared on Monday.

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69,000 Wasted Opportunities

I seem to keep coming back to this, or maybe it keeps coming back to me?

In May 2013, when Angelina Jolie published “My Medical Choice” in the New York Times in which she revealed that she had had a preventative double mastectomy due to her BRCA+ status, the world was shocked.  Tons of previvors, among others, responded to Jolie’s article with support, thrilled that a celebrity name would finally bring some real awareness to genetic testing, BRCA, and previvor issues.  I was a little less thrilled; you can read here if you like, but the gist is that I felt that Jolie had missed a chance to let potential BRCA+ patients know about the resources that are available to them.  She didn’t mention genetic counseling, she didn’t mention FORCE  – the only organization that exists to support people with HBOC or BRCA mutations.  Later, I admitted that my response was emotional and reactionary.

But it turns out I might have been sort of right about Jolie’s missed opportunity.  Yesterday in BRCA Commons (a Facebook Group for previvors), there was a lot of conversation about this article posted by one of the group members (I won’t reveal details of the conversation since the group is private).  The link goes only to the abstract of the article, but the abstract identifies the main points – by the day after Jolie’s announcement in the NYT, the National Cancer Institute’s fact sheet on Preventative Mastectomy received  69,225 hits – a 795-fold increase over the previous day (the article concludes that this proves there is direct correlation between celebrity disclosure and online information seeking behavior – do I even need to comment on what a ridiculous use of research dollars that was?).  Jolie used the phrase “preventative double mastectomy” in her NYT piece, and the NYT provided a link from her article to the NCI fact sheet.  Thus, it makes sense that so many people clicked on the fact sheet – the NYT directed them there.

Also linked from Jolie’s article: when she writes of her 65 percent risk of ovarian cancer, the words “65 percent” are linked to the Standford Genetics Program, as well as a direct link to the Pink Lotus Breast Center where Jolie had her surgery.  I can only assume that Stanford paid to be have their program linked from the article since I see no reason why this specific genetics program (among who-knows-how-many-others) would have received this “luck.” But I digress.

The missed opportunity comes then, I suppose, not from Jolie herself, but from the NYT.  At any point in her article when she mentions her risks or her surgery, the NYT could have linked to a variety of pages from FORCE that offer  information by HBOC and BRCA specialists – not just cancer specialists like the NCI, but those specifically in the know about BRCA.  Then, 69,225 people would probably have a much better and more nuanced understanding of the importance of genetic testing and the relevance of BRCA to their particular lives; for all we know, most of those people went to that NCI Fact Sheet and found it such a turn-off (because it is not welcoming in any way, like FORCE is, and is instead so black and white and full of medical terminology) that they did not seek any further information about BRCA.

Like I said above, the abstract of the article about the correlation concludes, “Celebrity disclosures can dramatically influence online information-seeking behaviors.”  And while I think that is so ridiculously obvious that I can’t believe it was even funded, I’m quite interested in the second part of their conclusion, “Efforts to capitalize on these disclosures to ensure easy access to accurate information are warranted.”  Yes – capitalize.  Stanford Genetics seems to have; Pink Lotus might have.  But certainly, I wish our previvor community had been able to – and I don’t mean financially.  I wish we had had the opportunity to say, hey NYT – we are here.  Link to our blogs, link to our discussion boards, link to our mothership – FORCE – because we want to help those 69,225 people.  And even though no one wants to be a part of this, we want to welcome them to our community.

Too Quick to Critique?

I’ve received some criticism of my post about Angelina Jolie’s recent announcement that she is a BRCA1 carrier and has undergone a preventative mastectomy.  While I stand by my argument that she could have done more to promote the resources that are available to BRCA carriers, I do acknowledge that I was quick to critique.

Most of my peers (fellow BRCA bloggers, who I hope I have not now alienated) were thrilled with Jolie’s announcement and the awareness it will bring to genetic testing and preventative surgeries that can save us from suffering from breast and ovarian cancer.  Many people have made an important point – Jolie did not have to say anything – she could have kept this entirely private, and thus the face of BRCA would still be invisible to many.  I agree – I too am  excited that BRCA now has a celebrity face and that potentially thousands of people might be tested who would not have thought to ever do so – her announcement has brought to the front page a lot of information about genetic testing, gene patenting, prophylactic surgery, and more.

My critique of Jolie was mostly emotional.  FORCE and its members have been really important to me in my own journey, and it was immediately noticeable to me that Jolie only mentioned her partner as support.  Perhaps he really was her only support.  If so, I actually feel sad thinking that Jolie might not have known about FORCE and its community.  As a frequent commenter and poster to their message boards, I know that whole community would have been happy to help her with advice or support in any way.

She also suggests that people should be talking to their doctor about testing and its consequences – she does not mention genetic counselors.  As I’ve written here before, many doctors are not educated about BRCA.  My previous PCP did not know that BRCA could be inherited from your father – it can (that’s how I got it).  My husband’s previous PCP told him he didn’t need to be tested (even though his grandmother died of breast cancer ,and his sister, his mother, and his mother’s cousin are all breast cancer survivors) because the risks for men are minimal – also not true.  We now know that my husband is a BRCA1 carrier, and this means he will need screening the rest of his life for prostate, pancreatic, and other types of cancer for which he is at higher risk.

Jolie says her process began with nipple delay, saying nothing about the endless research, genetic counseling, and doctor consultations that most of us BRCA carriers do/have before our surgical procedures.  She says the decision was not easy, but doesn’t go into detail about how she made that decision – that is what most people in the FORCE and ‘previvor’ community are concerned about.  How do you come to that decision?  What are the consequences of knowing this information?  What do you do with it once you have it?

Jolie’s op-ed in the NYT, which has now been spread to virtually every news outlet around the world, was the perfect opportunity to discuss how people can get support before and after learning of their BRCA status.  Support doesn’t always come from a doctor or a partner.  It also comes from communities of people who’ve experienced what you’re going through.  I guess I’m just very thankful for that community, and I felt disappointed that it seemed to be neglected in what would have been a perfect place to highlight it.

Luckily, however, members of the FORCE community have seized the opportunity to bring FORCE to people’s attention.  Here is Sue Friedman’s interview on NPR.

Running Some Numbers

As much as I’ve complained about how often I’m asked about my family history, I’ve recently become more interested in it. My first cousin friend-requested me on Facebook two weeks ago. Because my father and her father (brothers) were estranged most of their adult lives, my cousin and I never had a relationship. Through some messages on Facebook, she disclosed that she’s BRCA2+ (like me) and recently finished treatment for stage 1 breast cancer. It’s so strange that she contacted me just as I started going through this (when she first messaged me, it was a week before the biopsy). I just can’t believe how many people in my family are affected by this.

We have a pretty comprehensive family tree on Geni, but none of our medical history is in there. So I drew a sketch of one myself and determined these numbers:

My grandfather had two sisters, and between the three of them, there are 18 blood descendants; my grandfather and his sisters all died of cancer. That’s 21 people total I’ll be referring to. Of course, my grandfather and his sisters were not tested for BRCA, but my grandfather certainly had it as did at least one of his sisters (her daughter is BRCA2+). Nine of us have been tested for the gene; seven of us are carriers. Eight of the 17 of us who are living (my father’s brother was BRCA2+ and died from pancreatic cancer in 2009) are under 25 (four are teenagers and four are under age five) and haven’t been tested yet.  These numbers might be significant, they might not be. I just wanted to see it laid out. I’m definitely curious about other families. Genetically, there’s a 50/50 chance of having the gene if a parent has it – but in our family, it seems higher (78% of those of us tested are positive).

The strange thing is that the cousin who friended me on Facebook is only 30 years old, and I am only 36. Up until now, no woman in my family has had breast cancer until the onset of menopause or later (this is typical with BRCA2). This is why I had been waiting to have any surgeries – I thought I was safe for at least ten more years. Another cousin of mine is going to research this – perhaps BRCA2 carriers are at risk at a younger age. If that’s the case, genetic counselors need to warn us.

HBOC Clinic in Review

I went to the HBOC clinic at the Hillman Cancer Center on November 2.  At this point, I don’t remember most of it.  All I know is, I waited almost 2 hours to be seen, and it was only when I told the receptionist that I was leaving that she remembered to tell the doctor I was there!  This process was already not off to a great start.  I met with two doctors: Kristin Zorn and Rachel Jankowitz.  Neither of them were particularly warm nor fuzzy.   Zorn recommended a complete hysterectomy instead of an oophorectomy (a word that I cannot spell correctly on the first or second try).  She feels that the less endometrial cells that remain, the better.  The effects are all the same and it’s not a much more significant surgery, so why not?  If anyone reading this knows differently, please do let me know!  I was pretty convinced – I will probably have her do the surgery since she’s done it a zillion times and is the most highly recommended gynecological oncologist in the city.  I also met with a genetic counselor: Darcy Thull.  I left with a list of things to do:

  • Email scan of BRCA results to Darcy Thull
  • Call Rhode Island Hospital genetic counseling to have records sent to Darcy
  • Call to schedule consults with Kandace McGuire and Gretchen Ahrendt, breast surgeons recommended by Jankowitz
  • Call to schedule mammogram for December
  • Call to schedule MRI for May (be sure to call the clinic a month before the appt to get pre-authorization.

When I left with this list, my main thought was, “Thank god I am an organized, literate person.”  I went there alone, I took my own notes, and I got most of the things on this list done within a few days.  But what happens to people who aren’t as savvy about these things?  It made me think there should be an HBOC concierge or something – one person who keeps track of this whole thing throughout, helps you make appointments, find the right people, get to the right places.  I find it overwhelming – I can only imagine what it must be like for people who aren’t as educated or don’t have the same sort of support I do.