The result is a pro

The result is a pro

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The result is a proliferation of panels designed to decipher DNA. How much each of these genes raises risk in individuals and at what age is often fuzzy “The clinical work got out ahead of us” says Fergus Couch an authority on BRCA and other breast cancer genes at the Mayo Clinic in Rochester Minnesota “The [sequencing] technology changed so quickly” that “we did not have time” to develop answers to the questions patients and doctors are now asking In the summer of 2013 GeneDx launched its Breast/Ovarian Cancer Panel—spurred partly by the Supreme Court ruling against the Myriad Genetics patent claims on the BRCA genes Other companies including Myriad itself and Ambry Genetics along with academic medical centers have jumped in with panels of dozens of genes linked to an array of cancers “We’re really looking at things that will provide the physician with the ability to make a treatment plan” for example by adding increased surveillance says Sherri Bale managing director of GeneDx The genes on the company’s panels are “a moving target” she says with culprits added and sometimes deleted based on the available scientific evidence Bale believes the panels which cost in the neighborhood of two or three thousand dollars are suitable for high-risk families but not yet for the general population THE LIST OF 21 GENES sits between us and I consider all I could learn by simply saying yes The counselor isn’t advocating I sign up for the full panel But she draws my attention to one gene in the moderate-risk purple grouping CHEK2 The list of cancers beside it is long: “Female Breast Male Breast Colon Prostate Thyroid Renal Endometrial (serous) Ovarian” I’m vaguely familiar with CHEK2 as a breast cancer gene from my own reporting “Is CHEK2 more common in Ashkenazis” I ask still stuck on heritage as my cancer driver and the reason I’m in this room to begin with “No” the counselor replies But in addition to prostate my paternal grandfather had colon cancer “He was in his 70s” I protest Nonetheless CHEK2 testing for me is worth considering the counselor says A CHEK2 mutation could roughly double my risk of breast cancer to at least 20% Annual breast MRIs and mammograms would likely be recommended I’m stymied Adding another gene for testing had never occurred to me And yet if the test is positive the course of action sounds relatively benign and potentially lifesaving “Let’s do it” I say We’ve been talking for about 40 minutes The counselor pulls out a consent form “There’s one more thing” she explains A block of text is titled “Variant of uncertain significance (VUS)” It reads in part: “I may learn that a VUS was identified by this test This means that a genetic change (variant) was identified but it is unknown whether the variant may cause cancer” A given cancer gene can have thousands of variants some showing up in just a handful of families worldwide Certain variants are a major contributor to disease whereas others are benign changes in DNA that practically speaking mean nothing Again my years of medical journalism have failed to prepare me “How common are these in BRCA and CHEK2” I demand For BRCA1 and BRCA2 the counselor explains about 2% of people have a VUS (I later learn that VUS rates fluctuate depending on the company offering the test) She is not sure about CHEK2 but is happy to find out She stresses too that finding a VUS would not affect medical guidance and that the hospital will recontact me if a VUS is later reclassified as either harmless or pathogenic I push aside my hesitation sign the forms and am off to the lab for a blood draw Driving home my intolerance for uncertainty rears its head Do I really want to know if I have a VUS What’s the point That afternoon I send the counselor an e-mail I tell her I’m worried that learning about VUSs “will cause me anxiety and there will be no benefit to having this information I’m wondering whether it’s possible not to receive information about any VUS that may turn up in testing … Is this an option” She writes back quickly and kindly She has checked with GeneDx and learned that for regulatory reasons they are obligated to share information if a VUS is found She will ask her medical director whether the hospital can keep a VUS finding from me But she wonders too whether “you will feel anxious not knowing whether or not you may be recontacted in the future regarding a reclassified VUS … Chances are you will not have a VUS and then you may feel relief to know you do not have one” Later she writes to say that her medical director is comfortable withholding a VUS if no pathogenic variants turn up And there’s more good news: She has learned that the VUS rate for CHEK2 per GeneDx is only 16% far lower than she originally thought—although estimates vary depending on whom you ask I shelve my inner dialogue over which information I want TWO DAYS LATER while GeneDx is parsing my DNA I’m on the phone with Susan Domchek an oncologist studying breast cancer genes at the University of Pennsylvania We are discussing cancer risk genes in people without a family history of disease Unprompted Domchek brings up CHEK2 testing “We don’t know how to incorporate it into patient care” she complains referring to women who test positive and their families “What percentage of the time does it really add anything to the situation” I don’t mention that my own CHEK2 test is in process Instead I inquire about the frequency of CHEK2 mutations in the general population Domchek’s response that only about one in 200 people in the United States is a carrier helps me exhale Domchek is one of many researchers trying to illuminate the interplay between cancer genes and disease Along with Offit Couch and others she has developed an online registry called PROMPT that opened earlier this fall It aims to register thousands of people who have had the panel testing offered by a host of companies including GeneDx Ambry Myriad Quest Diagnostics and Pathway Genomics Their goal is a database that will help them examine how specific gene variants affect health “We need to get the world’s experience with all these panels” Couch says He also points out an irony: Despite some uneasiness scientists like him need panel testing to continue because it’s their best shot to gather enough data to tackle research questions At the same time “You don’t want to do science … at the cost of the patient” he says Couch is part of an international consortium called ENIGMA that’s working to sequence breast cancer genes from 40000 cancer patients and healthy people The project will nail down the risk conferred by different mutations and study the impact of VUSs on disease Outside the United States panels of cancer genes are largely restricted to research settings and investigators often don’t share information about mutations that carry a modest or unknown risk There’s much debate over what to tell volunteers “We struggle with it” says Hans Ehrencrona a clinical geneticist at Lund University Hospital in Sweden “Where to draw that line no one knows for sure” Every woman in Sweden who receives BRCA testing is now also offered the chance to sign up for a study in which she’s tested for 63 other cancer genes Results from only seven of those are shared with the participants Many moderate-risk genes are not on the list says Ehrencrona who’s helping lead the effort As an example he points out “CHEK2 is quite common in Sweden We do not return it” ONE TUESDAY MORNING IN OCTOBER minutes after a work conference call ends my phone rings “I have your results” the counselor announces It’s been 19 days since I met with her “What do you want to know” Well the pathogenic mutations of course I say There’s great news she tells me: No pathogenic mutations were detected in any of the three genes Relief rushes through me “Do you want to know about any VUS” she asks I think about CHEK2 and the 16% VUS rate she quoted What are the chances “Sure” I say “There were no variants of unknown significance detected in BRCA but a variant of unknown significance was detected in CHEK2” she tells me Reading from the GeneDx report she explains that my VUS is a deletion of 15 DNA nucleotides The variant has been found in two men with prostate cancer and in vitro analysis suggests it causes a partial loss of function of the gene I expected distress a ringing in my ears fear coiling in the pit of my stomach Instead I’m almost laughing I think “That’s it That’s what’s being shared with patients these days” Two men with prostate cancer cells in a petri dish a loss of function that may or may not translate into pathogenicity: This does not merit my mental energy “People need to become more comfortable with uncertainty” Sharon Plon a clinical geneticist at Baylor College of Medicine in Houston Texas tells me a few days later But she stresses that acknowledging uncertainty “does not mean that we don’t know anything” For many families with cancer large panels provide constructive guidance I write to my cousin in San Francisco to share my test results; she is the only close female relative on my father’s side where the cancer cases cluster And she’s more familiar than most with the panels: Her mother my nonbiological aunt is fighting ovarian cancer and signed up for a panel of 41 genes offered by the University of Washington Seattle She tested negative for all of them My cousin had urged me to consider the same panel which has now expanded to 48 genes In the end I explain in my message to her it wasn’t something I wanted “I know the panels are often discouraged” she writes back It’s a view she doesn’t share Even without a clear-cut action plan she wants to know whatever message her DNA carries for her future The only reason she’s eschewed testing for herself is because insurance is unlikely to pay for it “Knowledge is power” she writes “I don’t see any downside at all” which explains why I lingered over one earlier this fall. 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