Cancer-Related Genetic Testing and Counseling Workshop Proceedings (2007) / Chapter Skim
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2 Prepared Presentations and Discussion
2 Prepared Presentations and Discussion
Pages 3-116
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From page 3... ...
We have had clinical genetic testing for the BRCA-1 and -2 breast cancer genes for about 10 years. As we end this decade, we feel we have passed an important milestone, and we should think about what has happened over this time.
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From page 4... ...
Clinical genetic testing for breast cancer genes is often done prior to surgical decision making. If a woman is going to need hormonal therapy or chemotherapy before her definitive surgery, genetic testing may weigh very heavily in whether she decides to have a mastectomy on the tumor side or even bilateral mastectomy as part of the initial treatment planning.
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From page 5... ...
We were involved in the first breast cancer prevention trial, and shortly after that I established a high-risk program within our Revlon/UCLA breast center. It became clear to me that other centers around the country that were doing the leading-edge work in terms of the alpha and beta testing for genetic testing were beginning to see these highrisk populations and that this would be an important clinical service as well as an avenue to do clinical translational research.
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From page 6... ...
As she was going through her surgical decision making, she considered whether she should have bilateral mastectomies. Because of her strong family history, we did genetic testing, and she had no evidence of a deleterious breast cancer gene mutation.
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From page 7... ...
Survivors account for about 15 percent of all new cancer diagnoses that occur every year. It takes a very long period of time for breast cancer to develop from the very first cell that is malignant to one that we can detect -- dissemination occurs in the interval between the first cancer cells and cancer detection.
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From page 8... ...
The American Society of Clinical Oncology's (ASCO's) most recent guidelines for breast cancer care and surveillance recommend that any younger woman of Ashkenazi Jewish heritage with breast cancer, even if there is no family history, should have genetic testing.
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From page 9... ...
This has likely occurred because we have had people who have been interested from the research standpoint, but also there is a high level of consumer awareness and a lot of available breast cancer information, and physicians who are treating these patients are aware that this is an issue particularly in the young patients who present to them. We have a diametrically different experience with colorectal cancer patients.
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From page 10... ...
. With HNPCC we see a wide variety of cancers, and I think we are probably going to see more of that with the breast cancer genes as well, because these mutations are in every cell of the body, so the potential to develop a malignancy is widespread.
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From page 11... ...
Genetic counselors being in short supply, a patient or consumer can get specific educational information from websites without risking genetic information in his or her medical record. Counseling sessions can occur over the phone with a counselor from a particular company.
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From page 12... ...
We have found that patients with cancer already, the breast cancer patients in particular, who might be expected to value an explanation for their disease, are sometimes more distressed because they know what cancer means, and they now have to think about it again, make decisions about preventive treatment, and consider informing other family members, those who are at risk. Very often when that information suddenly and unexpectedly involves the man's side of the family, where there has been no expression of the disease, it can be very challenging.
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From page 13... ...
I am very excited about the speakers we have here today, because we are focusing on forum initiatives to identify and define the challenges of delivering quality care to those who have cancer, are survivors (and many of those will have had a hereditary predisposition to cancer) , and then the large number of pre-vivors who will benefit from high-quality and affordable genetic counseling and testing without the fear of discrimination.
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From page 14... ...
For these very high-risk women, who have had multiple relatives with breast cancer in their twenties and thirties, we don't want them uniformly to have preventive mastectomies. I am not an advocate of that by and large, although obviously I will support a patient's decision.
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From page 15... ...
But it forces the issue of some debate internally; can we cover BRCA testing, let alone all the other testing that is going to face us very soon?
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From page 16... ...
Dr. Jeffrey Weitzel, Director, Department of Clinical Cancer Genetics, City of Hope Cancer Center: My comment goes back to the MRI issue.
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From page 17... ...
There is a lot of counseling that goes with them. The goals of cancer genetic counseling and testing are many, but some of the major ones are: at what age should we begin screening, should we be screening some people younger than average, should some have more intensive screening as we have discussed with breast MRIs or colonoscopies as compared to flexible sigmoidoscopy, are there healthy lifestyle choices that we can be offering, and is there chemoprevention such as tamoxifen or other agents that could help prevent cancer in the first place?
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From page 18... ...
I will provide information about the training of genetic counselors, the training programs, and the demographics of the people providing these services, and then make some recommendations for expanding the genetic counseling workforce. This information is based on a report I gave to the Secretary's Advisory Committee on Genetic Health in Society in my role as President of the National Society of Genetic Counselors in 2003.
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From page 19... ...
We tested the other sister with premenopausal breast cancer, and she had two variants of uncertain significance in BRCA-2. We tested her sister with ovarian cancer at that point, and she had a mutation and her sister didn't, even though she had premenopausal breast cancer.
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From page 20... ...
About 50 percent of their tests are ordered by genetics providers or genetic counselors, 40 percent by oncologists, and 10 percent BOX 2-1 Inherited Cancer Syndromes • Birt-Hogg-Dube • Hereditary diffuse gastric • Carney complex cancer • Cowden syndrome • Hereditary leioomyomatosis • FAP/APC and RCC • FAMM • Hereditary melanoma • Juvenile polyposis syndrome • Hereditary mixed polyposis • Familial prostate ca. syndrome • Gastric polyposis • Lynch/HNPCC • Hereditary clear cell RCC • Li-Fraumeni syndrome • Hereditary paraganglioma • MEN1, MEN1A syndromes • MEN2 • Von Hippel Lindau • Nevoid basal cell carcinoma • Peutz-Jeghers syndrome • Wilm's tumor syndrome • Retinoblastoma • WAGR • Tuberous sclerosis complex • Xeroderma pigmentosa
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From page 21... ...
There are good employment opportunities for genetic counselors; 75 percent are employed within one month from graduation. I should emphasize that all the genetic counseling training programs require training in cancer genetics and a placement in cancer genetics, so this young workforce is probably more able to deal with cancer genetics than some of the more experienced counselors if they haven't sought retraining.
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From page 22... ...
It does not appear to me that the workforce is moving from one field to another, raiding one genetic counseling specialty for other opportunities. I think genetic counselors are in the field of cancer genetics because that is what they are interested in.
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From page 23... ...
So you have to counsel people as to what the results mean. Genetic counselors are very busy, and not just doing cancer genetic counseling.
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From page 24... ...
At one time, genetic counselors were certified by the American Board of Medical Genetics, as were geneticists. In 1993, the genetic counselors formed their own board, the American Board of Genetic Counseling.
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From page 25... ...
If we were going to increase the number of genetic counselors, there are several things we could do. All of the genetic counseling programs that exist today are willing to expand.
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From page 26... ...
Dr. Joseph Fraumeni, Director, Division of Cancer Epidemiology and Genetics, National Cancer Institute: What proportion of the demand for genetic counseling is cancer related and cancer relevant?
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From page 27... ...
, one survey focused on the people who do primarily cancer genetic counseling. Approximately 10 percent of respondents to that survey indicated that they were thinking of leaving the field, and another 20 percent were apparently undecided, but it was an option under consideration.
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From page 28... ...
Anderson Cancer Center: I was impressed that the sequencing is so expensive, especially with that test becoming so much more routine. I would like to know why that might be, and also, what part of that fee comes back to support the genetic counseling program, which is so vital for cancer care?
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From page 29... ...
We already have a national board test by the American Board of Genetic Counseling, but that is a test of competence and training, not a license to practice. On the federal level, however, there is a move to have CMS recognize genetic counselors the same way they recognize physicians' assistants.
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From page 30... ...
Dr. Ganz: We are moving to a different business model exemplified by breast cancer patients who are now making decisions about treatment and what they are going to have done.
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From page 31... ...
There are many examples not related to health care that I am not going to focus on: ancestry and paternity testing, for example. There are also tests that are health related and health profiling -- for diseaserelated genes, predictive genes, profiling, pharmacogenetic tests, tests for your heart health, your bone health, and even tests for athletic performance that help determine which sport is right for you.
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From page 32... ...
The company states that it has board-certified genetic counselors on staff and provides posttest consultation as part of the service. If you fill out the online questionnaire answering no to every question except that you were diagnosed with breast cancer after age 50 -- for example, no to any family history and things like that -- the site recommends full gene sequencing because you are the first person in the family to be tested, and you don't have Ashkenazi Jewish ancestry.
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From page 33... ...
and thus at higher risk of breast cancer recurrence, and that genetic testing is available to help determine this. Studies have not shown that prospective genotyping for 2D6 prior to selection of therapy improves outcomes, and the FDA has not yet made any label change.
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From page 34... ...
. Among consumers, they found 14 percent were aware of nutrigenetic tests, and 0.6 percent had used them.
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From page 35... ...
That involves the laboratory analyzing test specimens that are sent to it to assess the accuracy of its determinations. However, there is not a specialty area for molecular and biochemical genetic tests, and there is no clear mandate under CLIA that genetic testing laboratories perform proficiency testing.
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From page 36... ...
for strengthening oversight at both the FDA and CMS. The CMS issued a notice of intent to develop a specialty area for molecular and biochemical genetic tests in 2000, and in April 2006 it got as far as putting it formally on their regulatory agenda with a release date of November 2006.
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From page 37... ...
. These have particular relevance for this discussion, because the first example of an IVDMIA was a test that claimed to determine whether a woman is likely to have a recurrence of breast cancer.
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From page 38... ...
The FDA, despite having a relatively low level of oversight for genetic testing, has started thinking about how genetic information can improve drug development and therapy and improve safety and effectiveness of drugs. The agency has issued several guidance documents, including a final guidance on pharmacogenomics data submissions in 2005 and a draft guidance for pharmacogenetics tests and genetic tests for heritable markers in 2006.
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From page 39... ...
both have considered draft statements of policy on DTC genetic testing suggesting transparency or, in the case of ACMG, announcing that testing should be ordered, received, and interpreted by qualified health professionals. In theory, these societies could influence DTC practices.
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From page 40... ...
There are two bills being considered in Congress at the moment. One, introduced this past month by Senators Kennedy and Smith, would give the FDA jurisdiction over laboratory-developed tests and would require CMS to issue a genetic testing specialty.
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From page 41... ...
This is a very different product, and I think people pause before going to a website and ordering genetic tests. So there will always be people who will buy this stuff, but whether it rises to the level of something that we should spend an extraordinary amount of effort to control, I'm just not sure right now.
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From page 42... ...
Greene: Delivery and Research Issues: Health-Care Provider Supply and Preparedness: I want to begin with a summary of the various levels at which health-care providers may interact with the genetic testing and counseling process to frame the discussion of the workforce issues that I have been asked to address. You have heard the sequence, beginning with a positive family history, followed by an effort to evaluate the significance of the family history with a subset of individuals being further selected for formal genetic risk assessment.
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From page 43... ...
In contemplating the workforce that is available to participate in genetic risk assessment as a whole, we have a fairly diverse menu (primary care physicians, specialty p hysicians -- oncologists, gynecologists, gastroenterologists, and so on -- genetic counselors, advanced practice nurses, social workers, specialty surgeons, and clinical investigators)
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From page 44... ...
There is no question that the demand side of this health-care problem is quite large. The remainder of my presentation will describe the involvement of each of the major disciplines involved in providing cancer genetics services.
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From page 45... ...
A continuing medical education (CME) video series was made available to its membership that highlighted an approach to taking a good family history as well as modules on hereditary breast and colon cancer.
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From page 46... ...
Most adult practitioners have not been exposed to these materials, communication with geneticists may not be optimal, and published guidelines for managing adult genetic disorders may not be readily available. Fortunately, there is now a burgeoning set of web-based resources that make clinical cancer genetics much more accessible to the interested practitioner.
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From page 47... ...
PREPARED PRESENTATIONS AND DISCUSSION 47 Number of Certificates Year FIGURE 2-2 M.D. certificates issued by ABMG since its inception.
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From page 48... ...
There are efforts underway to expand this list, and there are also a few joint subspecialty fellowships that are available that might help to recruit some additional candidates, but, at present, these trends do not bode well for the clinical cancer genetics workforce of the future. From my perspective, medical oncology is one discipline in which the professional society, ASCO, has really done a spectacular job.
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From page 49... ...
Although one could debate whether that is an accurate assessment, it seems that nononcologist practitioners are, in fact, sending patients to oncologists for genetic services. Fifty percent of the oncologists interviewed reported feeling qualified to offer genetic counseling for cancer susceptibility, and 85 percent of the oncologists felt qualified to recommend genetic testing for their patients.
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From page 50... ...
From my perspective, genetic counselors are a critical piece of the clinical cancer genetics workforce, but their numbers are far below what the demand requires. The comment I made earlier regarding the obstetrics and pediatrics basis of medical genetics applies in the counseling arena as well.
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From page 51... ...
These nurses have a very strong independent practice focus, working for all intents and purposes as full-fledged medical oncologists. A small but growing number of these highly trained clinicians have elected to focus their practice on cancer genetics, after having obtained additional training in cancer risk assessment, genetic counseling, and the medical aspects of hereditary cancer susceptibility syndromes.
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From page 52... ...
had one or more genetic counselors on staff. Interestingly, gynecologic oncologists were an important source of clinical cancer genetics care at these institutions.
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From page 53... ...
At that time, 44 percent said yes: 50 percent of white respondents, 33 percent of African Americans, 32 percent of American Indians/Alaskan Natives, 28 percent of Asian/Pacific Islanders, and 21 percent of Hispanics. Test awareness was significantly associated with higher education, white race, age less than 60 years, and private health insurance, indicating that targeted strategies to ensure risk-appropriate utilization of genetic counseling and testing might be beneficial (Wideroff et al., 2003b)
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From page 54... ...
It represents one potential solution to the workforce issues that we face, particularly related to the geographic maldistribution of genetics service providers. There is a growing literature suggesting that genetic risk assessment and genetic counseling can be done in a telemedicine framework.
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From page 55... ...
If recent projections regarding a shortage of medical oncologists prove accurate, we face a growing gap between the number of providers and the demand for genetic services. I find it particularly disturbing that, in this postgenomic era that holds forth the promise of personalized medical care based on genetic profiling, genetic counseling as a discipline is not growing as rapidly as it should.
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From page 56... ...
My sense and personal experience are that they are a cost-effective hybrid of genetic counseling and medical oncology, one that may be ideally suited to mitigating the workforce shortfall that appears to lie ahead. They have the clinical skills that genetic counselors do not possess and can function as medical decision makers as a result of their training, licensure, and certification.
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From page 57... ...
One of the reasons creating such a program is such a challenge is because, if for example, we see a 59-year-old woman with breast cancer, and her daughter, 29, has had a preventive mastectomy, will her granddaughter be spared? We are dealing with both the risk reduction options being in some cases quite draconian, as well as the fact that there is an emotional burden in these families, making counseling essential to help them work through these processes.
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From page 58... ...
A cancer risk counseling program should take the patient that Dr. Ganz described earlier, and even though the testing was not informative to begin with, appropriately assign her to high-risk screening because her empiric risk by the Elizabeth Claus risk model was over 30 percent, based on having two first-degree relatives with breast cancer under 50.
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From page 59... ...
As I mentioned, hormonal modulation by oophorectomy or tamoxifen reduces the risk of a second primary cancer, so we already have insights. What is really striking is that if you don't recognize this syndrome, the risk of ovarian cancer, even though it has not been seen in the family before, is substantial, and ovarian cancer was the cause of death in 25 percent of the stage I breast cancer patients in this series (Metcalfe et al., 2005)
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From page 60... ...
at age 35 or upon • Clinical breast exam once a year - baseline age 35 (or 5-10 yrs. before begin age 40 + completion of earliest breast cancer in family)
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From page 61... ...
We have a research support core and a clinical cancer genetics laboratory. We have both the cancer screening and prevention program network that I am going to describe for you at some length, and we created a cancer genetics education program that is supported by an R25E cancer education grant; that became significant for us in terms of our health services research and also in changing peoples' behavior.
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From page 62... ...
62 cancer-RELATED GENETIC TESTING AND COUNSELING Department of Clinical Cancer Genetics Bio-behavioral Research Underserved Chemo COH - Depts. multi-ethnic prevention NRE; Research populations Clinical Extramural Research Psychology research Trials Collaborations Molecular Epidemiology Cancer Modifier Genes Screening & Clinical Outcomes Consortia Health services Clinical research: Prevention Outcomes • risk assessment Program Research, methods Network Genetic • communications A Community Epidemiology • technology-enabled Laboratory delivery Informatics, Distance Hereditary Medicine Basic and Translational Cancer COH Research Research Division of BRI: Registry Information Divisions of: Sciences •Molecular Medicine •Biology •Immunology Technology Transfer Epidemiology & •Molecular Biology COH - Prevention Clinical Molecular Diagnostic Research Laboratory USC - Dept.
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From page 63... ...
The surgeon there told me no one was offering genetic counseling in Redding, and he needed help to integrate this into his breast cancer practice. We trained his nurse in counseling sufficiently to set him up with a telemedicine unit, and he can then present his cases to us.
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From page 64... ...
position in genetic counseling. They have also gone on to do economic modeling of the side benefits to the hospital of running their program.
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From page 65... ...
What does our registry show us? Table 2-1 displays the characteristics of the hereditary cancer registry dataset, and Table 2-2 shows some of the
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From page 66... ...
results. The majority of our cancer patients have breast cancer, but the numbers of our colon cancer patients are increasing.
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From page 67... ...
with bilateral breast cancer 35 45 7 No. with ovarian cancera 17 41 2 No.
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From page 68... ...
What about resources now available in the community? Now we have a more robust literature: the ACS national conferences on cancer genetics, the ASCO curriculum and courses, the National Society of Genetic Counselors educational material, the Oncology Nursing Society and International Society for Nurses in Genetics material, and the educational material of the National Coalition for Health Professional Education.
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From page 69... ...
Why would another institution want to pay a comprehensive cancer center to help them create a network like this? A lot of it has to do with quality and the ability to have a marquee service.
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From page 70... ...
In our underserved cohort, what was striking is that the median breast cancer size for the young Latinas that were being referred was 6 centimeters. That is obviously h orrendous.
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From page 71... ...
So this is a population that is important. To the extent that information about one's risk of developing disease motivates early detection and screening, genetic counseling and testing may be an effective way to encourage earlier screening among African American women who have a family history of breast cancer that is suggestive of a hereditary condition.
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From page 72... ...
We are conducting a randomized controlled trial of women age 18 or older who were recruited from clinical facilities and community oncology programs in Philadelphia, self-identified as being African American or black, and who had a 5 to 10 percent prior probability of having a BRCA‑1 or BRCA-2 mutation based on their personal and family history of the disease. We used a standard genetic counseling format that was developed at Georgetown University that provides education about hereditary breast cancer susceptibility genes and the process of genetic testing; a personalized assessment of the likelihood that they have a BRCA-1 or BRCA-2 muta
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From page 73... ...
There was then a 2-week postdisclosure test result follow-up telephone call and further follow-up telephone interviews at 1, 6, and 12 months. We are very proud that we have enrolled more than 200 women to our protocol, which means that they completed a baseline telephone interview and expressed some interest in coming in for genetic counseling.
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From page 74... ...
We were told that recruitment materials needed to emphasize that participants would get something out of it. Therefore, we emphasized that they would get breast cancer risk information in recruitment materials.
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From page 75... ...
We looked at predictors of decisions about study enrollment. We found that women who had a strong family history of cancer and those who were referred from oncology or community oncology practices were most likely to enroll in the study, and those from oncology clinics were more likely to participate in genetic counseling (Halbert et al., 2005)
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From page 76... ...
We also wanted to know if there were differences in test result acceptance among women who received culturally tailored versus standard genetic counseling. We predicted that risk of mutation would strengthen and fatalism about cancer would weaken intentions to test, that probability of mutation and strong family history would strengthen participation in counseling, and that culturally tailored counseling, certainty about cancer risk, and some demographic factors such as marriage would increase test result acceptance.
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From page 77... ...
However, we found that women who were married and those who were less certain about their risk of developing breast cancer were most likely to receive their genetic test results. I think our finding that certainty about one's risk of developing cancer has implications for genetic counseling is important when we think about this particular population.
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From page 78... ...
Our experience shows that it is feasible to recruit African American women to participate in hereditary breast cancer research. We have expanded the diversity of the population in the clinical cancer risk evaluation program at the University of Pennsylvania.
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From page 79... ...
At baseline, test result acceptance is based on everyone who enrolled in the study, so in the total sample 22 percent participated in genetic counseling and testing and received their test results. Of women who participated in counseling, 47 percent had testing and received their results.
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From page 80... ...
It was surprising that so few women came in for genetic counseling and even fewer came in to receive their genetic test results. I do not have a good reason for it.
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From page 81... ...
Dr. Hughes-Halbert: I'm not aware of empirical studies that have evaluated cultural differences between African American and white women within the context of genetic counseling and testing for inherited breast cancer risk.
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From page 82... ...
Dr. Ganz: To be eligible to come in for genetic counseling, did the women have to have some level of risk so they would be appropriate for counseling?
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From page 83... ...
We learned that specialists were generally comfortable with specialtyrelated genetics and knowledgeable about available resources. It was interesting that oncologists were far more likely to perform genetic counseling and testing and the least likely to discuss ethical or social issues.
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From page 84... ...
One allows genetic counselors to bill, but only under a physician's name, and five do not cover genetic counseling at all. Washington State Medicaid reimburses for nonphysician masters-level counselors billing under their own name and has for some time.
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From page 85... ...
Claims data, however, will not show me who is billing for genetic counseling. I can get the testing data, because there are specific CPT codes for the tests, but almost all physicians use the evaluation and management codes for office visits and consultations, and those codes do not allow me to differentiate between a genetic evaluation and a consult for chronic ear infections.
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From page 86... ...
That presents somewhat of a challenge in the world of genetics, particularly genetic counseling, because the desired outcome is not necessarily improved health but rather the empowerment of the patient to make the most appropriate medical decision. Is the outcome whether the patient chooses to pursue genetic testing or whether she has a prophylactic mastectomy or oophorectomy?
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From page 87... ...
states, "These services are provided by trained genetic counselors and may include obtaining a structured family genetic history, pedigree construction, analysis for genetic risk assessment, and counseling of the patient and family. These activities may be provided over one or more sessions and may include review of medical data and family information and face-to-face interviews and counseling services." My hope is that this code will allow us to see specifically who is providing genetic counseling.
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From page 88... ...
The American College of Medical Genetics is trying to revise that. But, this is a very small subset of the overall genetics provider p opulation.
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From page 89... ...
A family history is not sufficient for coverage. I mentioned "incident to" services earlier.
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From page 90... ...
There are definitely plans that only reimburse for services provided by a licensed provider, but we have worked with several in our state to help them change the language in their policies to "appropriately credentialed provider," which could be somebody who is certified by the American Board of Genetic Counseling. We worked very hard in our state to develop a template for credentialing in plans the masters level or Ph.D.
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From page 91... ...
geneticists as preferred providers. Last but not least, we can advocate for state licensure of genetic counselors, as the National Society of Genetic Counselors has been doing vigorously for the last several years.
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From page 92... ...
By behavioral impact, I mean the impact of cancer susceptibility testing on rates of cancer screening and of preventive surgery. What are the psychological consequences of cancer genetic testing?
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From page 93... ...
Then, in terms of the behavioral impact of genetic testing, there is a whole list of management options, some of which are likely effective, such as breast cancer surveillance, chemoprevention, or prophylactic surgery; others less so, for instance, ovarian cancer screening. However, it is clear that without appropriate behavior change, genetic testing will not lead to reduced morbidity and mortality.
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From page 94... ...
Probands, that is, women from this cohort that had had breast cancer showed a small nonsignificant decrease in cancer-specific distress at 6 months whether their tests were positive or negative (Schwartz et al., 2002)
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From page 95... ...
There has been less research looking at the specific impact of genetic testing on family functioning, although it has been an ongoing concern. There are some data suggesting that women who did not share their concerns with their partners prior to testing reported more distress following testing, and that is regardless of test result.
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From page 96... ...
Nonetheless, we looked at rates of ovarian cancer screening following testing. First, we found significant increases in CA125 screening among positives (21 to 68 percent)
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From page 97... ...
Predictors of ovarian cancer screening were psychosocial, perceived risk for ovarian cancer, and anxiety. A study of colonoscopy after genetic counseling and testing in 98 men and women without a personal history of colorectal cancer from 11 extended HNPCC families found that at baseline there was no difference between men and women.
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From page 98... ...
So with a younger cohort we are going to see longer lags between positive test results and oophorectomy. Predictors include older age, ovarian cancer risk perception, a family history of ovarian cancer, and those who were affected with breast cancer, in particular those who were affected with early breast cancer, which certainly makes sense.
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From page 99... ...
In breast cancer survivors, that is, women who have completed primary breast cancer treatment, we carried out a study of rates of prophylactic contralateral mastectomy within 12 months of genetic counseling and testing. Prior to testing, 16 percent of survivors had a prophylactic mastectomy, a high percentage probably reflecting decisions made at the time of original treatment.
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From page 100... ...
There have been several studies over the last few years that have looked at the psychological effects and effects on the quality of life of having prophylactic surgery. Two very large retrospective studies from the Mayo Clinic cohort, going back 30 plus years, looked at prophylactic mastectomy among unaffected women with a family history of breast cancer and reported that at a mean follow-up of 14.5 years over 70 percent were satisfied with their decision.
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From page 101... ...
Whether we can extrapolate the lack of adverse psychological outcomes to testing delivered in the community is an open question. The traditional genetic counseling model may or may not be tenable in the future as demand increases and genetic testing for cancer becomes more
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From page 102... ...
Finally, as genetic testing becomes increasingly integrated into clinical care, as in newly diagnosed breast cancer patients or with microsatellite instability testing in colon cancer patients, are the outcomes going to differ from the largely self-selected earlier adopters who were the participants in many of the studies I just reviewed? There is some evidence, for instance, that women who get a prophylactic mastectomy following a physician recommendation do worse over the long term than women who came to
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From page 103... ...
It is not an issue of informed decision making, it is not an issue of personal choice. They say, if you have a prophylactic mastectomy your risk for breast cancer is reduced by over 90 percent, so have a prophylactic mastectomy.
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From page 104... ...
The issues of genetic discrimination are nontrivial and significant; they are, however, getting better, but they continue to bear watching. I would like to talk about four things: the current status of genetic discrimination with respect to insurance and employment, the Genetic Information Nondiscrimination Act (GINA)
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From page 105... ...
There are more low-risk alleles, things with a penetrance that might take your lifetime risk from 2 percent to 5 percent, or something that has 100 times relative risk. If you are a male and you have a BRCA-2 mutation, you are at 100 times risk of the average male of getting breast cancer, but it still puts you at maybe 1 percent lifetime risk.
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From page 106... ...
Then, there have been a plethora of state laws. Roughly 45 states have laws limiting or banning the use of genetic information in health insurance underwriting.
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From page 107... ...
I think all the genetic counselors around the room, or all the people involved in provision of clinical genetic services, have mentioned in their talks this issue of genetic discrimination as a factor that patients care about. They are worried about losing their insurance or their employment even though there does not seem to be any basis for that fear.
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From page 108... ...
But the ones I think we care most about are health insurance and employment; these are the two areas of genetic discrimination that cause the most concern in the United States. Depending on the survey evidence, somewhere between a third to a half of people will list fear of genetic discrimination as one reason they did not pursue genetic testing.
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From page 109... ...
The GINA would ban genetic discrimination, or discrimination based on genetic information, broadly in health insurance and employment throughout the United States. Its health insurance provisions go to group insurance, individually underwritten insurance, and medigap insurance.
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From page 110... ...
Personal medical history is not covered, family medical history is. Genetic tests are defined as tests of DNA, RNA, proteins, or metabolites that provide information about a gene, a genetic variation, or mutation, or chromosomal abnormality.
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From page 111... ...
One proposed solution to that is to shift more into long-term care insurance. There is some genetic testing that long-term care insurers and those contemplating buying long-term care insurance would really be interested in, and that is the Alzheimer's test, particularly the ApoE4 allele test.
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From page 112... ...
So this complicates all of our considerations, everything from how to reimburse genetic counseling to how many new oncologists will be
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From page 113... ...
In the broad context of cancer, genetic testing for assessment of cancer risk is currently an interesting but relatively small issue, which is not to minimize the important efforts of the researchers working on it and all the women and men struggling with high risk. If we examine the known genetic variations that are highly correlated with cancer; BRCA-1 and -2, HNPCC, FAP, and many smaller syndromes, and we add all the people up who are likely to be diagnosed with cancer from one of those currently known genetic sources in a year, I doubt that we get to 50,000.
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From page 114... ...
They need to get an amendment to GINA to do it, because GINA prohibits an HMO from requesting that its members take family genetic tests.
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From page 115... ...
I think that is interesting and might be a worth pursuing. It is not going to be so much a problem with Europe or China or Korea, but I have no idea what the health-care financing system's position on genetic discrimination is in India or Thailand or Brazil.
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From page 116... ...
We cannot select better than that because breast cancer phenocopies are everywhere. It does not diminish the need for genetic testing, because with testing we identify those few that do have very high risk.
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Key Terms
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