Cancer Genetics Studies Consortium

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Cancer Genetic Studies Consortium

Background

In September 1994, in response to a Request for Applications for Studies of Genetic Testing and Counseling for Heritable Breast, Ovarian and Colon Cancer Risks, the National Human Genome Research Institute (NHGRI), along with the National Cancer Institute, the National Institute of Nursing Research, and the National Institute of Mental Health awarded more than $2.5 million to 11 research projects. The purpose of these grants was to examine the psychosocial and clinical impact of using gene-based diagnostic tests in families with heritable forms of breast, ovarian and colon cancer; assess public knowledge and attitudes about genetic testing for cancer risks; and gather information needed to establish clinical protocols for the optimum use of these risk assessment technologies in the future.

The 11 grants funded under the RFA were joined by five other projects to form a research consortium, that has met annually since early 1995 to compare findings on issues common to all the projects, to reduce duplication of effort, and to promote sharing of information about informed consent issues and quality assurance of the DNA tests, methodologies and research findings.

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Accomplishments

Initial study findings are becoming available and have resulted in the publication of more than 25 papers in peer reviewed journals including, JAMA, American Journal of Medical Genetics, Journal of the National Cancer Institute and Nature Genetics, with several more papers currently in press or submitted for publication.

Based on the deliberations of the task forces formed by consortium members, and in addition to the individual publications, four joint papers on followup recommendations, informed consent, and policy issues were published in 1997 and 1998:

In 1997 and 1998, the NHGRI and NCI supported the renewal of a number of Consortium projects and funded six new related studies that have now joined the Consortium.

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Original Consortium Grants and Publications

BOWEN, Deborah (former PI-Burke, Wylie)
Fred Hutchinson Cancer Research Center
Seattle, Washington

"Counseling Strategies for Breast Cancer Risk"
Grant #R01 HG/CA01190
Grant period: 09/30/94 - 07/31/97

This study will evaluate different methods of counseling for women with a family history of breast cancer. The study will take advantage of an existing breast cancer cohort to identify family members who are candidates for counseling concerning their risk for breast cancer. Subjects from these high-risk families will be offered genetic counseling and DNA-based linkage studies to test for the presence of a BRCA1 mutation accounting for cancer risk within the family. A total of 400 other subjects will be randomized to one of three counseling interventions or to a comparison group. These interventions are: genetic counseling, group psychosocial counseling, or primary care provider counseling. Comparisons among study arms will be made to assess the effect of different counseling strategies on: perceived breast cancer risk, breast screening behavior, anxieties and fears about breast cancer, and other health-related feelings and behaviors. A qualitative assessment of participants' reactions to the counseling process and opinions about the risks and benefits of genetic testing will also be included. Study data will provide a broad public health perspective on the counseling needs of women with a family history of breast cancer, as well as information on the needs of high-risk families.

BURKE, Wylie
University of Washington
Seattle, Washington

Genetic Susceptibility Testing for Breast Cancer"
Grant #R01 HG01085
Grant period: 09/30/94 - 07/31/97

This project will develop knowledge about health care provider and patient perceptions of breast cancer, to guide the clinical use of DNA-based tests to measure inherited susceptibility for this condition. Information about inherited susceptibility to breast cancer could stigmatize individuals with positive test results and alter concepts of personal responsibility for health. As a new and highly sophisticated technology, DNA-based genetic susceptibility testing may also have potential for over-use, thus representing a new threat to cost-effective clinical care. The study will address these issues with questionnaires and interviews to determine: (1) how women receiving routine health care and primary care (PC) providers think about breast cancer risk, and their receptiveness to the use of a test for inherited susceptibility to breast cancer; (2) how women react to receiving risk information about breast cancer based on their family history; and (3) whether PC providers differ from genetics professionals in their approach to counseling concerning genetic risk for breast cancer. In addition, a Policy Group, comprising study investigators and experts in genetics, ethics and health services delivery will be formed and will meet regularly during the course of the project, to review study data and to identify the major policy considerations applicable to the use of the genetic susceptibility testing for breast cancer.

Burke, W., M.J.E. Kahn, J.E. Garber, and F.S. Collins. " First Do No Harm' also applied to cancer susceptibility testing." Cancer J Sci Amer. 1996; 2:150-152.

Burke, W., N. Press, and L. Pinsky. "Breast Cancer Genetics from a Primary Care Perspective."Cancer. 1997; 80(3):621-626.

Press, N.A., W. Burke, and S.J. Durfy. "How are Jewish Women Different From all Other Women? An Anthropological Perspective on Genetic Susceptibility Testing for Breast Cancer Among Ashkenazi Jewish Women." Health Matrix: Journal of Law-Medicine. 1997: 7(1): 135-162.

Durfy S.J., T.E. Buchanan and W. Burke. "Testing for Inherited Susceptibility to Breast Cancer: A Survey of Informed Consent Forms for BRCA1 and BRCA2 Mutation Testing." Am J Med Genet. 1998; 75: 82-7.

Bars J., J. Hull and W. Burke. "Breast Cancer." Genline, Ed. Roberta Pagon. 1998.

Koenig, B.A. and N.A. Press. "Desperately seeking narratives of genetic testing for breast cancer." Bioethics in Context. Ed. Barry Hoffmaster. Oxford University Press.

DALY, Mary B.
Fox Chase Cancer Center
Philadelphia, Pennsylvania

"Coping with Genetic Risk for Breast and Ovarian Cancer"
Grant # R01 HG01189
Grant period: 09/30/94 - 07/31/97

This study will examine the efficacy of brief, nurse-delivered counseling intervention, Stress Inoculation Therapy (SIT), on the enhancement of psychological adjustment to the receipt of genetic cancer risk information, on the improvement of comprehension of genetic risk, and on the promotion of adherence to follow-up prevention recommendations. In addition, we will assess how coping style disposition moderates the effects of the intervention. Outcome measures will include both general psychological adjustment as well as risk-specific distress. The availability of DNA markers for the BRCA1 gene will allow us to compare risk assignment based on clinical parameter with that provided by genetic testing to determine if family history can serve as a tool to select appropriate candidates for genetic screening in the future. The proposed study provides a unique opportunity to develop and test among women of different socioeconomic and ethnic groups a relatively brief psychoeducational counseling intervention which could have a significant public health impact on cancer control.

FLICK, Bonnie
Primary Children's Medical Center
Salt Lake City, Utah

"Psychological Impact of Parental Genetic Testing on Adolescent Girls"
Grant # R01 HG/CA01213
Grant period: 09/30/94 - 07/31/96

The genetic locus, BRCA1, confers a significantly increased risk of breast and ovarian cancer. This pilot project will survey the knowledge, belief and risk perceptions regarding breast and ovarian cancer of forty adolescent female children of adults undergoing DNA analysis for BRCA1. In addition, their emotional, behavioral, academic and social functioning will be assessed and compared to a matched control group. These subjects will be recruited from a large kindred (K2082) that has been extensively studied at the University of Utah and found to have markers on chromosome 17q tightly linked to the BRCA1 gene. Parents will be undergoing DNA testing for BRCA1 in a parallel study as their non-tested daughters are being evaluated. Genetic counseling will be provided to each adolescent prior to the DNA analysis of the parent. A follow up evaluation will be done 6 months after the parents are notified of their gene status. The findings of this preliminary project will lead to the generation of specific hypotheses to be tested in an intervention study designed to remediate the identified unmet needs in this potentially vulnerable population.

GARBER, Judy E.
Dana Farber Cancer Institute
Boston, Massachusetts

"Dissemination of a BRCA1 Predisposition Testing Program"
Grant # R01 HG/CA01244
Grant period: 09/30/94 - 07/31/97

This project will evaluate a BRCA1 predisposition testing program modeled closely on the Huntington's disease paradigm for members of previously identified families in which cancer susceptibility has been linked to BRCA1 with posterior probability >90 percent. Although we anticipate the cloning of BRCA1 before or during the project, we will restrict participants to members of linked families because of the limitations of available risk information which has been derived from linked families only (1,2). In this project, we will develop, implement and evaluate a program in which we will train and supervise genetic counselors and nurses to administer pretest education and disclosure counseling for BRCA1 susceptibility to members of linked families in their local communities. We will observe the psychosocial effects of genetic testing for risk of breast and ovarian cancers in members of these BRCA1-linked families. We will describe the impact of participation in a predisposition testing program with regard to quality of life and cancer risk management health behaviors. We will also provide an education intervention to the health care providers of female relatives regarding medical management and genetic privacy implications of heritable cancer risks, and will assess the impact of the intervention on provider knowledge and recommendations for risk management.

Patenaude, A.F., K.A. Schneider, S.A. Kieffer et al. "Acceptance of invitations for p53 and BRCA1 predisposition testing: Factors influencing potential utilization of cancer genetic testing." Psycho-Oncology. 1996; 5: 241-250.

Patenaude, A.F. "Psychosocial impact of familial cancers." In: Inherited Tumors, D. Malkin, ed. Springer-Verlag.

Patenaude, A.F. "The genetic testing of children for cancer susceptibility: ethical, legal, and social issues." Behavioral Sciences and the Law.

Hoskins, K.F., Stopler, J.E. Calzone K.A. et al. "Assessment and Counseling for Women with a Family History of Breast Cancer." JAMA. 1994; 273(7): 577-585.

Biesecker, B.B. and J.E. Garber. "Testing and counseling adults for heritable cancer risk." J. Natl. Cancer Inst. 1995; 17: 115-118.

GELLER, Gail
Johns Hopkins Medical Institutions
Baltimore, Maryland

"A Model Informed Consent Process for BRCA1 Testing"
Grant # R01 NR04062 (Funded by the NINR. Member of CGSC)
Grant period: 09/30/94 - 07/31/97

This study will develop, implement and evaluate a model informed consent (IC) process for genetic testing for breast cancer that integrates the perceptions of consumers and providers. The model IC process will address both content and style of disclosure and counseling. The study will develop and utilize surveys of providers and consumers to determine the knowledge, expectations and perceptions of both groups of genetic testing for breast cancer. After examining discrepancies between and among groups of consumers and providers, model educational materials will be developed for the IC process that reflect the expectations of consumers and providers. A pilot BRCA1 testing program will be implemented that incorporates the content of disclosure appropriate for each category of patient, and randomizes 140 female and male patients who are eligible and interested in BRCA1 testing to one of two disclosure styles: individual or group pre-test education and counseling. We will evaluate both the content and style of our model IC process in terms of patient knowledge, satisfaction, perceived decision-making autonomy and testing decisions. Our findings will have implications for the offering and utilization of genetic testing for breast and ovarian cancer, and for the development of IC guidelines, and will point to necessary improvements in medical training with regard to consent for predictive testing.

Geller, G., B.A. Bernhardt, K.A. Helzlsouer et al. "Informed consent and BRCA1 testing." Nature Genetics. 1995; 11: 364.

Geller, G., M. Strauss, B.A. Bernhardt, N.A. Holtzman. "Decoding informed consent: Insights from women regarding genetic testing for breast cancer susceptibility." Hastings Center Report. 1997; 27(2): 28-33.

Bernhardt, B.A., G. Geller, M. Staruss et al. "Towards a model informed consent process: A qualitative assessment of women's attitudes about genetic testing for breast cancer risk. Journal of Genetic Counseling. 1997; 6(2): 207-222.

GLANZ, Karen
University of Hawaii
Honolulu, Hawaii

"Genetic Testing for Colon Cancer in Multiethnic Hawaii"
Grant # R01 HG01241
Grant period: 09/30/94 - 07/31/97

This study aims to identify ethnocultural and psychosocial factors related to intentions to obtain genetic testing for heritable forms of colon cancer in increased-risk and control adults of Caucasian, Japanese and Hawaiian ethnicity who are living in Hawaii, and identify and describe ethical and social issues and attitudes that may affect intentions to offer genetic testing for colon cancer among health professionals in Hawaii. The first part of the study uses case-control methodology. We will use a mail questionnaire to survey first-degree relatives (FDRs) of patients diagnosed with colon cancer (n=750) and FDRs of age, sex, and ethnicity-matched population-based controls living in Hawaii (n=750). The second part of the study will survey physicians (n=875) and nurses (n=875) in Hawaii through mailed questionnaires. The survey will examine factors influencing intentions to offer genetic testing for cancer, including personal and practice characteristics, views about ethical and social-legal issues and attitudes toward genetic testing. This study is unique and timely because of its multiethnic population, the use of case control methodology, and the potential to establish a foundation for planning culturally appropriate and effective counseling programs related to genetic testing for cancer.

GRITZ, Ellen
UTMD Anderson Cancer Center
Houston, Texas

"Psychosocial Aspects of Genetic Testing for HNPCC"
Grant # R01 HG/CA01200
Grant period: 09/30/94 - 07/31/97

In order to gather important data on the psychosocial and behavioral aspects and sequelae of genetic counseling protocols for hereditary cancer, this investigation will study a consecutive series of approximately 1,000 index cases of Colorectal Cancer (CRC), identified at the UTMDACC, who will be offered molecular testing for hereditary nonpolyposis colon cancer (HNPCC) and participation in the study. From this series, approximately 65 carriers of HNPCC mutations, and 225 first degree relatives (FDRs) of those index cases will be enrolled. Spouses of FDRs (c.100) also will be enrolled in the psychosocial portion of the study. Finally, we will follow a sample of noncarrier index cases for psychosocial assessment in order to have carriers and noncarriers at all levels of the design. Major endpoints of the study will include completion of molecular testing; adherence to surveillance recommendations among carrier and noncarrier FDRs; and psychosocial indicators of distress and well-being. Four pilot studies will address important qualitative issues: a telephone "counseling line" to deal with questions, concerns and problems; audiotaped counseling sessions as an educational intervention; process analysis of counseling sessions; and field trips to registry families to study family dynamics in risk notification and genetic counseling.

Vernon, S.W., E.R. Gritz, S.K. Peterson et al. "Correlates of Psychologic Distress in Colorectal Cancer Patients Undergoing Genetic Testing for Hereditary Colon Cancer." Health Psychology. 1997; 16: 73-86.

Gritz, E.R., S.W. Vernon, K. Peterson et al. "Distress in the Cancer Patient and its Association with Genetic Testing and Counseling for Hereditary Non-Polyposis Colon Cancer." Cancer Research, Therapy and Control.

LERMAN, Caryn
Georgetown University
Washington, D.C.

"Comparing Models of Pre-Test Education for BRCA1 Testing"
Grant # R01 MH/HG54435
Grant period: 09/30/94 - 08/31/97

This study will test two protocols for providing effective and culturally-sensitive pre-BRCA1 test education to first-degree relatives (FDRs) of breast and ovarian cancer patients. The two protocols are: Standard Education that addresses the benefits, limitations, and risks of testing, and (2) Education plus Counseling that also addresses the psychosocial aspects of alternate testing decisions. The specific aims of this research are to: evaluate the relative impact of these pre-test education protocols on knowledge and attitudes about BRCA1 testing, testing plans and decisions, psychological well-being, and health behavior; identify women most and least likely to benefit, based on ethnicity, risk status, and coping styles; and determine the mechanisms by which pre-test education contributes to improved outcomes. The subjects will be 900 African-American and white women with a family history of breast or ovarian cancer. These pre-test education interventions will be replicable and exportable to diverse practice settings where women may seek BRCA1 testing in the future.

Lerman, C., B. Biesecker, J.L. Benkendorf et al. "Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing." Journal of National Cancer Institute. 1997; 89: 148-57.

Audrain, J., M.D. Schwartz, C. Lerman et al. "Psychological distress in women seeking genetic counseling for breast-ovarian cancer risk: The contributions of personality and appraisal." Annals of Behavioral Medicine.

Benkendorf, J.I., J.E. Reutenauer, C.A. Hughes et al. "Patients Attitudes About Autonomy and Confidentiality in Genetic Testing for Breast-Ovarian Cancer Susceptibility." American Journal of Medical Genetics. December 1997; 73: 296-303.

Hughes, C. A. Gomez-Caminero, J. Benkendorf et al. "Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk." Patient Education and Counseling. 1997; 32: 51-62.

Lerman C. "Psychological aspects of genetic testing: Introduction to the Special Issues." Health Psychology. 1997; 16: 3-7.

Lerman, C. "Translational Behavioral Research in Cancer Genetics." Preventive Medicine. 1997; 26:S65-S69.

PETERSEN, Gloria
Johns Hopkins University
Baltimore, Maryland

"Gene Tests for Colon Cancer Risk: Psychosocial Studies"
Grant # R01 HG01197
Grant period: 09/30/94 - 07/31/97

The main goal of this proposal is to develop appropriate comprehensive counseling guidelines for predictive colon cancer gene testing by assessing perceptions and attitudes toward the gene tests, including their social and psychological determinants, and assessing the impact of the tests on at-risk persons. Our specific aims are: to characterize in at-risk individuals those psychosocial factors that predict willingness to undergo genetic testing for colon cancer, to determine projected uses that will be made of the gene test, and to determine the influence of social context, primarily family culture, in shaping at-risk individuals' attitudes toward and perceptions of the gene test; to compare attitudes toward and perceptions of genetic testing for colon cancer between white and African-American individuals; to identify predictors of psychological distress associated with pre- and post-disclosure cancer risk perception based on: experiences with cancer, knowledge/beliefs/ feelings about cancer, implicit models of illness regarding cancer, cancer risk perceptions, coping behaviors and tolerance for ambiguity; and to assess post disclosure prevention-oriented health behaviors among persons receiving gene positive, gene negative and inconclusive test results.

Petersen, G.M. "Genetic epidemiology of colorectal cancer." European Journal of Cancer. 1995; 31A: 1047-50.

Petersen, G.M. "Genetic counseling and predictive testing for colorectal cancer risk." International Journal of Cancer. 1996; 69: 53-54.

TAYLOR, Kathryn
Princes Margaret Hospital
Toronto, Canada

"Practice Guidelines - Cancer Risk Information Providers"
Grant # R03 HG01245
Grant period: 09/30/94 - 07/31/96

The ultimate goal of this multi-phase research effort is to develop, implement and evaluate effective, evidence-based practice guidelines to assist the wide range of information providers who impart complex and sensitive information regarding the risk of heritable breast, ovarian and colon cancer (BOCC). Before these guidelines can be developed a comprehensive, systematic in-depth review of how risk information is currently disseminated and the knowledge, attitudes and beliefs of those relating the information, must be conducted. This study (Phase II) is an in-depth functional geography (FG) analysis of 12 settings (6 U.S./6 Canada) where information regarding heritable BOCC risk information is disseminated. Informants will be interviewed by telephone using the Telephone Interview Guide (TIG), designed to assess their knowledge, attitudes, behaviors, practices and perceptions (KABPP) regarding the provision of heritable BOCC risk information. The results will provide a path diagrammatic FG schema of information provision settings; will provide data from which preliminary practice guidelines for information providers will be established; and will be used to convert the TIG into a self-administered questionnaire for use in an international mailed survey in Phase III. Results of this research will be critical to the development of informational practice guidelines, the formation of effective educational interventions for heritable BOCC risk providers, and the supplementation of the current studies of the effects of risk notification related to genetic testing and counseling for patients/clients and their families.

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Ongoing Related Research Grants Included in Consortium

BIESECKER, Barbara Bowles
Medical Genetics Branch, NHGRI
Bethesda, Maryland

"Outcomes of Education and Counseling for BRCA1 Testing"
Protocol # 95 HG0085 (Funded by NHGRI Intramural Program.)
Project Period: 3/15/95 - 3/15/98

Women at increased risk for developing breast and/or ovarian cancer and their first degree relatives will be offered BRCA1 gene testing. This study proposes to evaluate psychological and behavioral aspects of their decision-making and the outcomes of the testing process. Knowledge and expectations will be assessed initially, followed by pre-test psychological assessment and an education and counseling session. Participants will be presented the choice of whether or not to undergo BRCA1 testing. Notification of test results will occur in person along with discussion of available surveillance options. Follow-up counseling evaluation and support will be provided. Psychological and behavioral outcomes will be reassessed at multiple timepoints following disclosure. Aspects of this research endeavor have been designed to complement an NCHGR/NCI extramural consortium and an NCHGR/NCI intramural collaboration both of which will address various aspects of risk notification and follow-up for hereditary breast, ovarian and colon cancer.

BOTKIN, Jeffrey R.
University of Utah
Salt Lake City, Utah

"Behavioral and Psychosocial Effects of BRCA1 Testing"
Grant # R01 CA63681
Grant period: 4/1/94 - 3/31/98

This research project will offer genetic testing to approximately 400 adult men and women who belong to a large kindred which has been found to have markers on chromosome 17q that are tightly linked with the BRCA1 gene, and provide them with individual results and counseling within a structured, multidisciplinary clinical environment. Women and men who are both gene positive and gene negative will be evaluated before testing and one week, three months, one year, and two years after testing to assess the psychosocial impact of the information on individuals and families. In addition, the use of preventive health services and individual health related behaviors will be evaluated pre and post genetic testing. The findings of this study will be important for our understanding of the psychological and behavioral responses to predictive testing for breast and ovarian cancer. The results also may assist in the development of predictive genetic testing protocols for other serious, adult onset conditions.

Botkin J, Croyle RT, Smith KR, Baty B, Lerman C, Goldgar D, Ward J, Flick B, Nash J. "A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing." JNCI. 1996, 88:872-882.

Croyle R, Smith K, Botkin J, Baty B, Nash J. "Psychological Responses to BRCA1 Mutation Testing: Preliminary Findings." Health Psychology. 1997:16:63-72.

Baty JB, VL Venne, J McDonald, RT Croyle, C Halls, JE Nash, JR Botkin. "BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues." J Genetic Counseling. June 1997: 6(2).

GREEN, Michael J.
Pennsylvania State Univ Hershey Med Ctr
Hershey, Pennsylvania

"Breast Cancer Gene Education - Computer vs Practitioner"
Grant # R03 CA70638
Grant period: 1994-1996

The objective of the proposed study is to determine whether computer-based education is as effective as practitioner-based education for increasing understanding of genetic testing for breast cancer. The primary study hypothesis is that comprehension scores on a test of immediate recall of information about genetic screening for breast cancer will be as high for patients informed by computer-based education as by practitioner-based education. The secondary hypotheses are that knowledge will affect intent to receive testing and that computer-based education is less costly than practitioner-based education. This study will test these hypotheses by a randomized controlled clinical trial using 150 women at high risk for familial breast cancer at two study sites. Consenting eligible subjects will be randomized to receive either education by computer or by genetic counselor. Immediately following the educational intervention, subjects will be given a multiple choice test of comprehension. Scores on this test will be measured, and group means will be compared. Intent to receive testing for the breast cancer susceptibility gene will be measured before and after the education intervention, and results will be compared to assess the effect of knowledge on intention to undergo genetic screening. Costs of computer- based education will be compared to practitioner-based education.

Green, M.J. and N. Fost. "An Interactive Computer Program For Educating and Counseling Patients About Genetic Susceptibility to Breast Cancer." Journal of Cancer Education. 1997; 12(4): 204-208.

Green, M.J. and N. Fost. "Issues in Genetic Testing: Who Should Provide Genetic Education Prior to Gene Testing? Computers and Other Methods for Improving Patient Understanding." Genetic Testing. 1997; 1(2): 131-136.

HADLEY, Don
National Human Genome Research Institute and National Cancer Institute, NIH
Bethesda, Maryland

"Outcomes for Education and Counseling for HNPCC Testing"
Protocol # 95HG0165 (Funded by NHGRI Intramural Program.)
Project period: 9/95 - 9/98

Individuals with colon cancer and/or polyps and their first degree relatives will be offered gene testing for Hereditary Non-Polyposis Colorectal Cancer. This study proposes to evaluate psychological and behavioral aspects of their decision-making and the outcomes of the testing process. Knowledge and expectations will be assessed initially, followed by pre-test psychological assessment and an education and counseling session. Participants will be presented the choice of whether or not to undergo gene testing at a point when mutational analysis becomes accurate and reliable. Notification of test results will occur in person along with discussion of available surveillance options. Follow-up counseling evaluation and support will be provided. Psychological and behavioral outcomes will be reassessed at multiple time points following disclosure.

OFFIT, Kenneth
Memorial Sloan Kettering Cancer Center
New York, New York

"Impact of Genetic Counseling and Testing for Breast Cancer"
funded by the American Cancer Society grant PBR-97
Project period: 1995 - 1998

The overall goals of these studies are to demonstrate the psychological effects of genetic counseling for women with a family history of breast cancer and the additional psychological impact of genetic testing as it is introduced into clinical counseling approaches. The specific aims are: to identify cognitive, emotional, and other factors that influence interest in and readiness to bank DNA samples for future BRCA1 testing among African-American women; to examine the effectiveness of genetic counseling as a means of educating women who are considering having genetic testing and to measure the impact of risk notification based on genetic testing and its effects on psychological functioning and preventive and early detection behaviors.

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Consortium Grants Competitively Renewed in 1997-1998

BOWEN, Deborah
Fred Hutchinson Cancer Research Center
Seattle, Washington

"Counseling Strategies for Breast Cancer Risk"
Grant # R01 R01 CA79654
Grant period: 09/30/94 - 07/31/00

In their previous study the researchers tested a potential model for providing genetic risk information to women in the general public. For this project, the researchers have designed a model for use in diverse medical and public health settings that provides risk information, breast health information, counseling and support for women who are concerned about their risk, and the opportunity for genetic counseling to appropriate women, and is designed to help women make informed choices about breast health. Specifically, the study will offer immediate or delayed: 1) risk information materials to women at all levels of breast cancer risk; 2) intensive group counseling to women who request or need it; and 3) genetic counseling mutation and testing to those women who might benefit from it. The specific aim of this study is to test the effects of the overall intervention package on cancer worry and perceived risk, quality of life and breast-screening intentions in a randomized controlled trial. The researchers hypothesize that the use of this package - written breast cancer information materials, participant risk counseling, and genetic mutation counseling and testing - will improve quality of life, reduce breast cancer worry and perceived risk, and improve intentions to obtain appropriate screening for breast cancer and genetic mutation testing. Leventhal's transactional model will be used to design the intervention components and to evaluate the effects of the intervention.

BURKE, Wylie
University of Washington
Seattle, Washington

"Guiding Clinicians in Genetic Assessment of Cancer Risk"
Grant # R01 HG01085
Grant period: 9/30/94 - 8/31/00

The overall goals of this project are to develop relevant, evidence-based clinical practice guidelines for genetic testing for BRCA1/2 through a consensus process involving community care practitioners and oncologists, and to evaluate the effect of the guidelines on clinical practice. The project will convene a Guidelines Group. Educational materials will be developed based on the guidelines, to aid clinicians in pedigree assessment, interpretation of the risks and benefits of BRCA testing, and use of cancer surveillance or other individuals with increased cancer risk. Educational seminars based on these materials will be presented to community physicians. These materials will be assessed using standardized patient encounters.

CODORI, Anne-Marie (former PI: Gloria Petersen)
Johns Hopkins University
Baltimore, Maryland

"Gene Tests for Colon Cancer Risk: Psychosocial Studies"
Grant # R01 HG01197
Grant period: 9/30/94 - 5/31/00

The main goal of this proposal is to develop appropriate comprehensive counseling guidelines for predictive colon cancer gene testing by assessing perceptions and attitudes toward the gene tests, including their social and psychological determinants, and assessing the impact of the test on at-risk persons. Our specific aims are: (1) To characterize in at-risk individuals those psychosocial factors that predict willingness to undergo genetic testing for colon cancer, to determine projected uses that will be made of the gene test, and to determine the influence of social context, primarily family culture, in shaping at-risk individuals' attitudes toward and perceptions of the gene test. This will be accomplished by a mail survey of 1,000 adults at risk for colon cancer. (2) To compare attitudes toward and perceptions of genetic testing for colon cancer between white and African-American individuals (and a subsample of their families). This will be accomplished with the mail survey data and by qualitative telephone interviews with members of 50 families (25 white, 25 African-American) sampled from the mail survey. (3) To identify predictors of psychological distress associated with pre- and post-disclosure cancer risk perception based on: experiences with cancer, knowledge/beliefs/feelings about cancer, implicit models of illness regarding cancer, cancer risk perceptions, coping behaviors, and tolerance for ambiguity. 200 individuals at high risk for colon cancer, based on family history, will be offered MSH2 and MLH1 gene tests. Data will be collected by questionnaire and interviews before and after gene testing (at one month, six months, and one year post disclosure). The gene test will result in one of three possible outcomes: definite gene-positive, definite gene-negative and inconclusive gene-negative. These will be stratified and compared using pre- and post-disclosure measures of distress and attitudes. (4) To assess post disclosure prevention-oriented health behaviors among persons receiving gene positive, gene negative and inconclusive test results. Because screening recommendations may vary with age, we will stratify our analyses by age groups as well as gene test outcome.

GARBER, Judy E.
Dana Farber Cancer Institute
Boston, Massachusetts

"Dissemination of a BRCA1 Predisposition Testing Program"
Grant # R01 HG/CA01244
Grant period: 9/30/97 - 11/30/00

This is a multi-site randomized study comparing standard genetic counseling (GC) to an enhanced consent-based (EC) model. The investigators will compare the effects of the two interventions on multiple outcomes. These include participant genetics knowledge, anxiety, interest in testing, satisfaction with the testing process and decision making. They will also compare the health care costs associated with both interventions and health behaviors.

GRITZ, Ellen
UTMD Anderson Cancer Center
Houston, Texas

"Psychosocial Aspects of Genetic Testing for HNPCC"
Grant # R01 HG/CA01200
Grant period: 09/30/94 - 07/31/01

This application proposes three interrelated phases of research. The first phase will extend the prospective descriptive study of psychosocial aspects of molecular testing for HNPCC in colorectal cancer (CRC) cases, the first degree relatives (FDRs) of CRC cases who are found to be carriers of an HNPCC mutation, and spouses/partners (S/Ps) of the FDRs. The second phase will study the psychosocial issues related to participation in a phase II randomized, controlled chemoprevention trial for HNPCC involving adherence to a Cox II inhibitor and periodic check-ups over a 1 year period. The third phase will focus on the family as a unit of study for genetic testing and counseling. The study population is comprised of cases of adenocarcinoma of the colon or rectum seen at the University of Texas M.D. Anderson Cancer Center, FDRs of CRC cases who are found to be carriers of an HNPCC mutation, and the S/Ps of the FDRs. Outcome measures of the proposed research include: 1) donation of a blood sample for genetic testing; 2) willingness to inform relatives about HNPCC status; 3) completion of genetic counseling for test results disclosure; 4) psychological status/well being; and 5) adherence to recommended surveillance procedures.

LERMAN, Caryn
Georgetown University
Washington, D.C.

"Comparing Models of Pre-Test Education for BRCA1 Testing"
Grant # R01 MH/HG54435
Grant period: 9/30/94 - 8/31/01

The project will carry out a multi-institutional randomized trial to evaluate whether the outcomes of BRCA1/2 testing among female mutation carriers are improved by providing a psychosocial telephone counseling (PTC) intervention in addition to standard genetic counseling (SGC). The specific aims are: (1) to evaluate the efficacy of PTC delivered in conjunction with SGC, compared to SGC only; (2) to explore the mechanisms by which the PTC impacts on psychosocial and behavioral outcomes; 3) to identify carriers who are most and least likely to benefit from PTC; and (4) to conduct an economic evaluation of the two counseling strategies. The participants in this randomized trial are 290 female carriers of BRCA1/2 mutations and 290 female noncarriers. A baseline assessment will be conducted prior to the offer of testing to collect data on background variables, moderator variables, and baseline levels of outcome variables. Following in-person, pre-test genetic counseling and informed consent, participants will have an opportunity to have BRCA1/2 testing. After providing additional written consent, they will receive their results during an individual in-person session with a genetic counselor. Following disclosure of mutation status, carriers of BRCA1/2 mutations will be assigned randomly to receive either SGC follow-up only or SGC plus PTC. The PTC protocol, adapted from the previous research of the study investigators, will be delivered in 6 sessions over a 3-month period after disclosure. Sessions will include supportive counseling and provide training in coping skills to enhance the outcomes of genetic testing. Follow-up interviews will be conducted at 1-, 4-, 6-, and 12-months post-disclosure to collect data on the following outcomes; comprehension, distress, family communications and functioning, adoption of recommended cancer screening practices, and satisfaction with decisions about prophylactic surgery. If beneficial and cost-effective, the proposed PTC intervention can be disseminated to varied research and clinical settings in which BRCA1/2 testing is offered.

TAYLOR, Kathryn
Princes Margaret Hospital
Toronto, Canada

"Cancer Risk Information Providers (CRIP): Phase III"
Grant # R03 HG01743
Grant period: 8/10/98 - 7/31/00

CRIP III is a self-administered mailed survey of 1500 cancer risk information providers (CRIPs). The questionnaire was developed from the results of the telephone interview guide (P-TIG) of CRIP Phase II and is designed to assess the knowledge, attitudes, behaviors, practices and perceptions (KABPP) of more formally recognized CRIP. The sample will include all CRIP identified (but not necessarily interviewed( in CRIP Phase II (n=250, U.S.; n=250, Canada). A similar CRIP group in the U.K. (N-125) and New Zealand/Australia (n=125) will also be included. The CRIP III questionnaire will also be sent to less formally recognized CRIP. They will be randomly sampled from the CRIP types identified in Phase II as key information providers, but not necessarily formally recognized [i.e., medical oncologists (250), surgical oncologists (250) and family physicians (250); 50 percent from the U.S. and 50 percent from Canada]. The total number of respondents will be 1,500 CRIP from five countries. These data will be collected by mail centrally from Toronto using the Dillman method. Based on previous results, an overall 80 percent response rate is anticipated. The results will be analyzed using descriptive statistics, log-linear modeling, logistic regression, analysis of variance and regression analysis. The findings of this mailed survey will: (I) provide data for a comprehensive report on persons providing heritable cancer risk information at this time; and (ii) be the basis for a CRIP IV International Consensus Conference to held in month 18 of this project.

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New Grants Funded in 1997-1998

CHO, Mildred K.
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania

"BRCA1/2 Testing: Patient Uptake and Treatment Choices."
Grant # R01 HG01576
Grant period: 9/30/97 - 8/31/00

This project is designed to examine factors associated with the uptake of BRCA1/2 genetic testing and patients' medical management choices after learning their test results. The project will study patients' actual testing and medical management decisions in clinical practice and will examine the role of practitioner attitudes in those decisions. Data will be collected through interviews with patients who are offered BRCA1/2 testing, and through questionnaires to their practitioners. The main goals of the project are: 1) to determine the characteristics of health care practitioners who are interested in or request the BRCA1/2 test, and to test the hypothesis that practitioner specialty, attitudes towards testing, and use of genetic counseling facilities are associated, and that these variables change over time; 2) to test the hypothesis that patient uptake of BRCA1/2 testing is associated with patient demographics, patient knowledge and concerns about testing, actual and perceived risk factors, physician characteristics, and the extent of the informed consent process; and 3) to examine the role of practitioner characteristics in patient medical management decisions after receiving BRCA1 testing.

GRIBBLE, James
Research Triangle Institute
Rockville, Maryland

"Evaluating Informed Consent in BRCA1/2 Screening."
Grant # R01 CA76992 (Informed Consent RFA)
Grant period: 9/30/97 - 8/30/00

This study will develop and validate (1) alternative methods for administering informed consent (IC) procedures to a diverse population of women at increased risk for breast cancer, and 2) standardized instruments to evaluate the effect of alternative methods on both comprehension and willingness to participate in research that includes screening for BRCA1/2 mutations. The study focuses on the "informed" part of informed consent and reflects the principles and methods of cognitive-based theories of decision making and risk communication. The study will be conducted in three stages. In stage 1, counseling protocols and IC forms used in pervious research that involved BRCA1/2 screening will be compiled and evaluated. During stage two a control condition that reflects "best current IC practices" will be developed along with two experimental conditions based on the deliberations of expert and lay panels. Also during stage 2, a standardized instrument to evaluate change in subjects' knowledge and beliefs about breast cancer and BRCA1/2 screening will be developed. In Stage 3 a standardized instrument will be administered to 456 first-degree relatives of women recently diagnosed with breast cancer before they are randomly assigned to and after they receive one of the IC conditions. Both process and outcome evaluation data will be collected. Outcomes will include changes in knowledge, attitudes and beliefs about breast cancer and genetic screening as well as willingness to participate in a research study that would include BRCA1/2 testing.

LERMAN, Caryn
Georgetown University
Washington, D.C.

"Decisions and Outcomes of BRCA1/2 Test for Breast Patients"
Grant # R01 CA74861 (Co-funded with NCI)
Grant period: 8/1/97 - 5/31/02

This prospective, longitudinal study will examine decision-making about pre-surgery BRCA1/2 testing and the medical, psychosocial, and economic outcomes of testing among newly-diagnosed breast cancer patients who are at high risk for having a BRCA1/2 mutation. The theoretical framework for this investigation is derived from Expected Utility Theory. The specific aims are: 1) to establish rates of uptake of BRCA1/2 testing prior to surgical treatment for breast cancer, and to identify the determinants of the decision to be tested; 2) to evaluate the impact of BRCA1/2 testing on patients' surgical treatment choices; 2) to evaluate the impact of pre-surgery BRCA1 testing on psychosocial well-being; and 4) to develop a model to estimate the costs of BRCA1/2 testing for newly-diagnosed breast cancer patients per quality-adjusted life-years saved.

MIESFELDT, Susan
University of Virginia Health Sciences Center
Charlottesville, Virginia

"Attitudes About Hereditary Breast Cancer."
Grant # R29 HG01554
Grant period: 9/30/97 - 8/31/02

This project will examine the knowledge, attitudes and beliefs of women from diverse backgrounds concerning the etiology of familial breast cancer. Aim #1: Twenty-five women with suspected hereditary breast cancer from diverse ethnic/racial, socioeconomic, and geographic backgrounds will participate in qualitative interviews designed to assess knowledge, beliefs, and attitudes regarding the etiology of familial breast cancer. Based on themes from these interviews, we will design a larger survey exploring these issues. Aim #2: Approximately 400 women will complete this survey of their knowledge and attitudes concerning hereditary breast cancer etiology. The influence of sporadic versus suspected hereditary breast cancer, ethnicity/race, socioeconomic status, and urbanicity will be assessed using a multi-variant ANOVA. Finally, in AIM#3, the results of both the qualitative interviews and the larger scale survey will be used to design and evaluate educational strategies for women at risk for hereditary breast cancer and their clinicians.

MILLER, Suzanne M.
Fox Chase Cancer Center
Philadelphia, Pennsylvania

"Facilitating Well-Informed Decisions for BRCA Testing."
Grant #: R01 HG01766 (Informed Consent RFA)
Grant period: 9/30/97 - 8/30/00

This study (N=300) of women at high familial risk for breast and ovarian cancer aims to develop and assess a core intervention, based on state-of-the-art theory and research, to facilitate well-informed decisions for BRCA1/2 testing. In this procedure the genetic cancer testing candidate is helped to cognitively and emotionally anticipate scenarios about alternative potential outcomes of testing outlined in the informed consent process. The goal is to enable the individual to vividly imagine the personal and social impact on herself and her future, in the context of a brief, structured supportive counseling session. The utility of the Cognitive-Affective Preparation (CAP) procedure will be evaluated systematically, in a randomized controlled trial, with General Health Information (GHI) serving as a control condition. Outcome measures include: the depth, complexity and accuracy of information processing; decisions about, and evaluation of, participation in genetic testing; and adjustment and adherence to recommended cancer-protective behaviors. Assessments will be obtained at baseline, after standard care, after CAP or GHI, after pre-disclosure and disclosure of results, and at 1 to 2 week and 6-month follow-up intervals.

PRESS, Nancy A.
Oregon Health Sciences University
Portland, OR

"Family Disclosure of Cancer Risk: An Ethnographic Study"
Grant # R01 HG001885
Grant period: 7/1/98 - 6/30/01

There is almost no systematic, empirical research on the topic of how information about genetic risk information travels through families, what family and cultural characteristics might impede or promote its dissemination, and how individuals at genetic risk conceptualize these issues. The purpose of this project is to explore these issues using risk information about breast and ovarian cancer as a model. Empirical data collection will begin with recruitment of individuals at elevated genetic risk for breast/ovarian cancer who present as patients at genetic counseling centers in Portland, Oregon and Seattle, Washington, but an attempt will be made to look at the entire family as the unit of analysis. Data about how risk information passes through the family will be gathered by qualitative interviews, observations of clinical encounters, and family focus groups. In the last half of the grant a policy group will be convened to examine empirical data from the study in light of normative legal and bioethical assumptions about these issues.

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Last Reviewed: October 1, 2012