MY BODY, MY BLOOD, MY DATA, MY CHOICE

By now, some of you may be aware that I was one of four patients named in a complaint against Myriad. A copy of the official complaint and a full explanation of Our Genes, Our Data is on the ACLU website. There is also a blog post on the ACLU site. Briefly, I simply wanted any and all data generated by Myriad from my BRCA test. I was afforded the opportunity to share the a personal statement during a call which included a number of representatives from the media.

My co-complianants are Barbara Zeughauser and Ken Deutsch (cousins), and Runi Limary. I am honored to stand beside each of them to let everyone know.....

Sidebar: It is noteworthy that Myriad launched a new patient portal approximately 45 minutes after they emailed me the information they previously said I was not entitled to have, and it is also noteworthy that this information was sent to me only after the phone press conference was publicly announced by the ACLU who facilitated our requests. Myriad's response to the complaint is posted on their website.

These were my remarks and what follows at the end are links to some of what has been shared by various media outlets over the past 24 hours.

The press statement

My name is AnneMarie Ciccarella.

I live in New York. Ten years ago, I was diagnosed with invasive breast cancer. Genetic testing was recommended by my doctors because my mom was in her 40's when she was diagnosed with invasive breast cancer. Testing was done by Myriad Genetics on my BRCA1 and BRCA2 genes. I was very concerned about my risk of developing other cancers. But more importantly, I wanted this information for the sake of my daughter and my sisters.

The test results were quite surprising and rather than providing me with answers, I was left with huge questions. Myriad reported that it found a variant of uncertain significance on my BRCA 1 gene and another variant of uncertain significance on my BRCA 2 gene. Basically, they identified the variants and provided me with four possible, and conflicting, scenarios.

My mom developed a second new breast cancer as I was finishing my own treatment and she too was tested by Myriad. She tested negative for both of the variants they found in my genes. Although Myriad has since reclassified both of my variants a few times, each time issuing a new test report, I still have no answers.

I began to volunteer as a patient advocate and I am very involved in cancer research. I was just honored to serve as an advocate mentor at the Annual American Association for Cancer Research Meeting last month where Vice President Biden spoke about the National Cancer Moonshot Initiative. I worked with a group of patient advocates to guide them through a presentation they would give on biomarkers. BRCA testing is considered a risk biomarker. Working beside some of the world’s brightest scientists, I have a much deeper understanding of cancer genetics and the need to pool all data so that scientists can look at the entire picture.

I asked for all of my genetic information from Myriad to learn as much as I could about my own body, but of equal or greater importance to me, I want to see that my data is included so that the research community has access to every bit of data that has been generated from my body. In February, I submitted a request to Myriad, seeking all of my genetic information, including any variants they may have identified but were not included in the report. After first informing me they had no record of my test at all, they then found the reports and sent me copies of what I was already given by my genetic doctor. In March, they informed me the rest of the genetic information I was seeking fell outside of what was covered by HIPAA.

Their response infuriated me. HIPAA is there for the protection of my privacy and Myriad should NOT be permitted to prevent me from accessing any and all information they obtained from my blood.

My body, my blood, my data, my choice how I wish to share that information.

They held their position, which was that they were only required to send me information they deemed to be clinically actionable or potentially clinically actionable. Until last night.

Yesterday, shortly after 5PM, I received an email notification from Myriad, the timing of which is oddly coincidental given our already scheduled conference. They stated that they wanted to voluntarily provide me with all variant information as I originally requested nearly three months ago.  The additional information I was provided showed there are actually 10 variants on BRCA1 and 5 variants on BRCA2. Myriad says these are not clinically actionable findings. There is a difference between clinically actionable and clinically significant. Words matter. Without going down a science rabbit hole, I’m struck by their choice of words, perhaps a bit concerned and may be reaching out to see if someone else can look at what I was sent to assure me these are not significant.

I am recalling the address VP Biden gave to close the American Association for Cancer Research meeting. Two things he stressed most? Sharing of data and “Never forget, Patients First.” I’m glad that they eventually provided me with further information.  That’s a great step forward.  But from the letter I received, it is unclear and quite ambiguous if Myriad will honor future requests from other patients. Based upon their own statement that they are voluntarily providing me with my own records, I can’t help but jump into advocate mode. When we advocate, we do so for the betterment of all. Yes, this is about me, my data and my ability to share it wherever I see fit. But it’s hard to separate my personal self from my advocate self. What was done for me, I expect will be done for any other patient who seeks their full record.  I call on Myriad to guarantee that it will provide every patient with access to their full genetic record upon request.

I will be filing a complaint today with three other patients in order to ensure that every patient can access his or her own genetic information. If HIPAA guarantees our rights to access our medical records, I can’t think of a more sensitive, or more important part of our record and we should have every right to obtain these records.

Thank you for your time.

--------

The call concluded at about 1:30PM. I ran out for my Thursday mental health afternoon which is a staple in my life. Each and every Thursday afternoon, I am committed to a private yoga session followed by meditation and talk therapy. I have a routine and it generally gets me home just in time to have dinner, which most Thursdays is something I pick up on my way home.

I certainly didn't expect THIS to happen. But it did. Three of us spoke on the call. Sandra Park, the attorney from the ACLU opened up the conversation. I spoke next and the last speaker was Rachel Liao who tweeted out the first article about the complaint.

w @ga4gh support:Patients File HIPAA Complaint Against Myriad Genetics for Withholding Variant Data #OurGenesOurData https://t.co/9jXfk7VyJZ

— Rachel Liao (@RachelGLiao) May 19, 2016

And my friend, Corrie Painter, indeed a true friend to the entire metastatic breast cancer community, sent this to me in response to the tweet from Rachel

Nice @chemobrainfog !!! https://t.co/cLoetGCmLl

— Corrie Painter, PhD (@corrie_painter) May 19, 2016

And then this with a link to yet another story....

Cheering for these patients https://t.co/scjTRiriUb to have all THEIR data
by @leah_samuel @statnews @myriadgenetics pic.twitter.com/NNx68cqu3i

— Eric Topol (@EricTopol) May 20, 2016

There were messages from so many people on twitter, Facebook, text messages and phone calls. I can't thank you enough for your supportive and kind words. I really didn't expect this to be quite such a big deal but, it absolutely is a big deal for every one of us.

Although a representative from Myriad claims in Science Magazine that "this is much ado about nothing," I might beg to differ. In the complaint, specifically regarding my BRCA1 variant, Myriad reclassified it from its original status of "we don't know" to "we think it's nothing" to "it's nothing" which means anyone whose test reveals this particular variant will not be told of the variant since it's now considered harmless. If they ask for the full data set including variants considered to be "harmless," that variant will be on the list, presuming the request is honored.

As an empowered patient and an advocate, I am not comfortable having someone else, not Myriad and not any other lab, decide what may or may not be of importance. Show me. Tell me what your experts believe but do not exclude me from the equation entirely. I fight this ~because I said so attitude~ at every other point in my medical care. I would not accept that answer from any clinician. Having information that I specifically asked for, generated by the lab and then not shared with me, leaves me with an incomplete picture. Of myself.

Is there anyone among us that is missing this point? Because that really is the point. I asked to have something analyzed. I asked to see the findings. I want that biomarker information, all of it, since that information may be a key factor in guiding treatment choices. Don't show me a puzzle and tell me those pieces on the side, part of my puzzle, don't matter. Don't tell me they don't fit when in fact, maybe they don't fit in the here and now, but perhaps they might, as science evolves. Or Not.

Is benign information going to confuse patients as some have suggested? I suppose it could, but, if the only way to put that information into a much larger database to be examined by more eyes and analyzed by more brains, is to have patients ask for their results so their data can be included for the science community, then we should have the option of doing that. Or not.

We should have the choice to ask and the right to expect that our request will be accommodated in a timely manner. And yes, we must understand all of the possibilities should our information, once in a public repository be tied back to us personally. Yes, we should have the option of saying, "Not me. That's private and shall forever remain so," as any individual decides to take their information and lock it in a vault only to be seen by those the person deems worthy. To each their own.

I'm not 5 years old. I don't need to be treated like a child. I'm not asking a question to prove a point. I'm asking a question because I just want an answer. I'm an adult. I don't need to be spoon fed because I'm not capable of understanding the hows and the whys. As an adult, I'm smart enough to know what I do not know and that I must rely on those who are experts to guide me. Yes, I'm passionate about this stuff and I'm determined to rely on my ability to ask questions.

In particular, I'd like to have the option to question what others may think of the all of the pieces. Interestingly, one of the two variants in my original report, the variant that will no longer be included in the reports of anyone going forward because it is "harmless," yes, that very same variant on my BRCA1 gene is in the ClinVar database. Its status, according to ClinVar, still indicates conflicting interpretations of pathogenicity. In other words, although Myriad "declassified" this variant, others are not so sure. This, my friends, is what we call a second opinion in patient language, and THIS my friends, is just one of the many reasons why I wanted my entire record. I could go all science geek here and ask about how much is known about the potential interaction of two or three or more variants in combination within the same individual but I would be well above my pay grade. That could easily be a moronic remark if looked at by a scientist who has a full understanding of this while I only have a slightly above average, lay perspective grasp on the whole thing.

Is this much ado about nothing as has been suggested? I'm inclined to disagree. That differing opinion on my BRCA1 variant is something. It seems the classification of this particular variant appears to be inconclusive at this particular moment in time, and since this also happens to be in my body, it's not nothing to me until all of the evidence is in. That very same spokesperson for Myriad states that they have previously provided these so called "polymorphism" data (the "harmless" variants identified) to the rare patient who asks. I might like to point out that I was one such "rare patient" who did ask and and my request was also refused until it was announced that I would be lodging a complaint with the Office of Civil Rights for Health and Human Services. He continued that remark by stating that they will certainly do so now, IF required under HIPAA.

To those who feel the complaint should have been dropped because four of us were provided with the information we requested, hours before the scheduled filing, it is that pesky word IF that is troubling to me and that IF is at the center of why I chose to move forward with the complaint.

As someone who has been fully immersed in my own care, has participated in joint decision making based upon all of the evidence based information available at the time of my decision, am I not also a partner in "ownership" of the data produced from my blood sample? As someone who has never walked out of an appointment without a written copy of test results in my hand, whether I could understand them or not, should I not have a complete copy of the data produced from a genetic test. What is the difference between an imaging test that states, Liver: unremarkable, Spleen: unremarkable, Kidney: unchanged from previously noted findings and XYZ variant: benign, ABC variant: benign, LMN variant: appears benign. In my mind, as the information gatherer and keeper of my medical records, there is no difference.

Let's remember, this is a request for the findings gleaned from something submitted by me, voluntarily, from my body and not as part of a clinical trial, but to guide personal treatment decisions. In that regard, the purpose of my choice to proceed with testing was crystal clear. In my very simple and under complicated mind, the results, and their availability should also be clear. If I submitted any sort of sample to perform the test, the findings should be shared with me, without hesitation.

I am of the opinion it is that simple and frankly, it's insulting to read that this is nothing more than an orchestrated political stunt on the part of the ACLU which was allegedly said by a Myriad spokesperson in one of the articles that was written. I'm not the type to be part of an orchestra. When I seek information, it is because I am a patient partner, I am a citizen scientist, I wish to advance research and participate in whatever way possible to move this needle a helluva lot quicker than what I've seen over the past forty years. Lives are counting on it and anyone or anything that is standing in the way of progress, frankly, has to step out of my way.

July 27, 2006.

I sat in a gown waiting for my breast surgeon. It was a post op check. A surgical biopsy was done ten days prior, after less invasive tests kept returning inconclusive results. My mother, a breast cancer patient 20 years earlier realized I would be getting bad news. We both knew. She held me in her arms as she tried, unsuccessfully, to hide her tears from me. I could not stop sobbing. "Is this the legacy I am leaving to you and your sisters?" And the tears spilled from her eyes.

January 4, 2013.

My mom was in the gown and I was alone in the waiting room as she was having a biopsy performed after being treated for a primary cancer in each breast. The first in 1987 and the second 2007. At 6:35PM, I turned to social media. My mom's cancer metastasized. And the tears spilled from my eyes.

My personal actions in this complaint, while multi pronged, are borne of a desire to do everything I can for my daughter. I don't want to replay either of those scenes. If I am to wrap my daughter in my arms to console her because yes, life can be sad, if tears must spill as they most certainly will, I would prefer neither of us be in a hospital gown.

If indeed, I come to be accused by association of orchestrating anything, I can assure you, this is what I seek to orchestrate: A different story for the next generation and for all of the generations that follow. By seeking and sharing whatever I can in the hopes that I am contributing to a change that is long overdue.



Here is a list of some of the stories that were shared with me since Thursday for anyone who might be interested. Some may require a free account in order to read them. Most don't.

http://www.nature.com/news/myriad-genetics-embroiled-in-breast-cancer-data-fight-again-1.19953

http://www.politico.com/tipsheets/morning-ehealth/2016/05/aclu-accuses-myriad-of-data-hoarding-dod-cerner-project-marching-on-congressional-doing-214414

https://www.genomeweb.com/molecular-diagnostics/patients-file-hipaa-complaint-against-myriad-genetics-withholding-variant-data

https://www.statnews.com/2016/05/19/myriad-genetics-hipaa-access/

http://www.sciencemag.org/news/2016/05/after-prominent-gene-testing-firm-declined-give-patients-their-complete-data-aclu-filed

http://abcnews.go.com/Health/biotech-company-patients-face-off-gain-access-genetic/story?id=39228231

http://www.ajmc.com/focus-of-the-week/0516/aclu-complaint-against-myriad-genetics-suggests-broader-campaign-to-compel-data-sharing

http://www.streetinsider.com/Corporate+News/Myriad+Genetics+(MYGN)+Addresses+HIPAA+Complaint%3B+Believes+it+Acted+Appropriately/11655784.html

http://healthitsecurity.com/news/patients-allege-genetics-company-violated-hipaa-regulations

https://www.geneticliteracyproject.org/2016/05/20/aclu-files-complaint-company-withheld-genetic-information-consumers/

http://sonoranweeklyreview.com/myriad-genetics-says-four-patients-file-complaint-against-company-to-hipaa-believe-complaint-lacks-merit-nasdaqmygn/

http://www.alternet.org/personal-health/biotech-company-wants-power-deny-patients-access-their-own-genetic-information

These two are the same stories from Reuters, but they were in publications for the UK and Asia.

http://uk.reuters.com/article/us-myriad-genetics-regulations-complaint-idUKKCN0YA308

http://www.channelnewsasia.com/news/health/myriad-hit-with-complaint/2801496.html

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