Publications by authors named "June A Peters"

35 Publications

Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.

Fam Process 2020 12 24;59(4):1648-1663. Epub 2019 Oct 24.

School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA.

Li-Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90% lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored healthcare roles for managing LFS-related cancer risks and treatments that were assumed by parents, adolescents, and adult children. Semi-structured interviews were conducted with 23 families. Family groupings were comprised of 2-5 members, with the younger generation in each family ranging in age from 7 to 40 years. Using grounded theory methods, we conducted open and focused coding of interview transcript content. Family members described how the role of health leader was implemented in their family, as well as factors such as maturation of a child or death of a member that determined who assumed particular roles and how these roles shifted over time. They often expressed collective responsibility for helping relatives understand LFS and implement appropriate cancer risk management. Members demonstrated their health role by attending others' medical appointments for support or information gathering. The health leader role was intergenerational and provided the family necessary support in navigating complicated healthcare decisions. Our findings provide insight into healthcare providers regarding how LFS patients and their relatives develop unique medical decision-making and caring roles influenced by the hereditary nature of LFS, and how these roles change over time. Providers who are attuned to family role dynamics may be better able to meet relatives' psychosocial and medical needs by understanding how living with LFS influences the family system's functioning and facilitating members' support for each other.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/famp.12497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434614PMC
December 2020

A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of .

Cancer Epidemiol Biomarkers Prev 2019 02 28;28(2):293-302. Epub 2019 Jan 28.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, Maryland.

Background: Eligibility guidelines for genetic testing may be revisited, given technological advances, plummeting costs, and proposals for population mutation screening. A key property of eligibility criteria is the tradeoff between the number of mutation carriers identified versus population members tested. We assess the fractions of mutation carriers identified, versus women undergoing mutation testing, for founder mutation screening in U.S. Ashkenazi-Jewish women.

Methods: carrier probabilities, based on personal/family history, were calculated using the risk-prediction tool BRCAPRO for 4,589 volunteers (102 mutation carriers) in the population-based Washington Ashkenazi Study. For each carrier-probability threshold between 0% and 10%, we compared the percentage of founder mutations detected versus the percentage of women requiring mutation testing. PCR mutation testing was conducted at the NIH for the 3 Ashkenazi-Jewish founder mutations (5382insC and 185delAG in , and 6174delT in ).

Results: Identifying 90% of founder mutations required testing the 60% of Ashkenazi-Jewish women with carrier probabilities exceeding 0.56%, potentially avoiding mutation testing for approximately 0.7 to 1.1 million U.S. Ashkenazi-Jewish women. Alternatively, testing the 44% whose carrier probability exceeded 0.78% identified 80% of mutation carriers, increasing to 89% of mutation carriers when accounting for cascade testing triggered after mutation-positive daughters were identified by screening. We present data on all carrier-probability thresholds, e.g., a 5% threshold identified 46% of mutation carriers while testing 10% of women.

Conclusions: Different carrier-probability thresholds offered diverse tradeoffs between numbers of identified mutation carriers versus women tested. Low carrier-probability thresholds identified 90% of founder mutation carriers, without testing approximately 1 million U.S. Ashkenazi-Jewish women with lowest carrier probabilities.

Impact: In general, this risk-based framework could provide useful new options to consider during eligibility-criteria development for population mutation screening.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-18-0584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451358PMC
February 2019

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

J Psychosoc Oncol 2019 Mar-Apr;37(2):178-193. Epub 2018 Dec 28.

a Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics , National Cancer Institute , Rockville , Maryland , USA.

Purpose: Li-Fraumeni Syndrome (LFS) is an inherited tumor predisposition syndrome with lifetime cancer risks approaching 100% and evolving risk-management strategies. This study evaluated couples' coping with LFS-related burdens.

Research Approach: Constructivist grounded theory and anticipatory loss frameworks guided design and analysis.

Sample And Methods: Twenty-six individuals enrolled in the NCI LFS Family Study completed semi-structured interviews with their partner during annual screening visits. An interdisciplinary team completed open and focused coding to identify patterns of coping and adaptation.

Findings: Couples described living with ambiguous danger, a state of chronic apprehension resulting from LFS-associated uncertainties. Most couples communicated openly and alternated shouldering the burden, while others engaged in protective buffering to shield each other from distress and sustain the appearance of normalcy.

Interpretation: Optimally, coping reduces shared psychosocial distress, yet some strategies may inadvertently increase disconnection.

Implications: Mental health support is critical for both partners coping with LFS, together and separately.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/07347332.2018.1543376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584025PMC
February 2020

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

JAMA Oncol 2017 12;3(12):1634-1639

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland

Importance: Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ cancer predisposition condition, are limited. Whole-body magnetic resonance imaging (WBMRI) may play a role in surveillance of this high-risk population.

Objective: To assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline.

Data Sources: Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium.

Study Selection: Cohorts that incorporated WBMRI for individuals with germline TP53 mutations from January 1, 2004, through October 1, 2016, were included.

Data Extraction And Synthesis: Data were extracted by investigators from each cohort independently and synthesized by 2 investigators. Random-effects meta-analysis methods were used to estimate proportions.

Main Outcomes And Measures: The proportions of participants at baseline in whom a lesion was detected that required follow-up and in whom a new primary malignant neoplasm was detected.

Results: A total of 578 participants (376 female [65.1%] and 202 male [34.9%]; mean [SD] age, 33.2 [17.1] years) from 13 cohorts in 6 countries were included in the analysis. Two hundred twenty-five lesions requiring clinical follow-up were detected by WBMRI in 173 participants. Sixty-one lesions were diagnosed in 54 individuals as benign or malignant neoplasms. Overall, 42 cancers were identified in 39 individuals, with 35 new localized cancers treated with curative intent. The overall estimated detection rate for new, localized primary cancers was 7% (95% CI, 5%-9%).

Conclusions And Relevance: These data suggest clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part of baseline clinical risk management in this high-risk population.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoncol.2017.1968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824277PMC
December 2017

Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.

JAMA Oncol 2017 12;3(12):1640-1645

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland

Importance: Establishment of an optimal cancer surveillance program is important to reduce cancer-related morbidity and mortality in individuals with Li-Fraumeni syndrome, a rare, highly penetrant cancer predisposition syndrome.

Objective: To determine the feasibility and efficacy of a comprehensive cancer screening regimen in Li-Fraumeni syndrome, using multiple radiologic techniques, including rapid whole-body magnetic resonance imaging (MRI) and laboratory measurements.

Design, Setting, And Participants: Baseline evaluation of a prospective cancer screening study was conducted from June 1, 2012, to July 30, 2016, at the National Cancer Institute, National Institutes of Health (an academic research facility). Participants included 116 individuals with Li-Fraumeni syndrome with a germline TP53 pathogenic variant who were aged 3 years or older at the time of baseline screening and had not received active cancer therapy at least 6 months prior to screening.

Main Outcomes And Measures: Detection of prevalent cancer with multimodal screening techniques and the need for additional evaluation.

Results: Of the 116 study participants, 77 (66.4%) were female; median age was 37.6 years (range, 3-68 years). Baseline cancer screening led to the diagnosis of cancer in 8 (6.9%) individuals (2 lung adenocarcinomas, 1 osteosarcoma, 1 sarcoma, 1 astrocytoma, 1 low-grade glioma, and 2 preinvasive breast cancers [ductal carcinoma in situ]); all but 1 required only resection for definitive treatment. A total of 40 (34.5%) participants required additional studies to further investigate abnormalities identified on screening, with 32 having incidental, benign, or normal findings, resulting in a false-positive rate of 29.6%. Non-MRI techniques, including baseline blood tests, abdominal ultrasonography in children, mammography, and colonoscopy, did not lead to a diagnosis of prevalent cancer in our cohort.

Conclusions And Relevance: This study describes the establishment and feasibility of an intensive cancer surveillance protocol for individuals with Li-Fraumeni syndrome. Prevalent cancers were detected at an early stage with baseline whole-body, brain, and breast MRI. Prospective screening of the participants is under way.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoncol.2017.1350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824271PMC
December 2017

Special Issue Introduction: Dealing with Psychological and Social Complexity in Genetic Counseling.

J Genet Couns 2017 04 7;26(2):1-4. Epub 2017 Mar 7.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, 9609 Medical Center Drive, # 6E548, Rockville, MD, 20850, USA.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-017-0080-0DOI Listing
April 2017

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Cancer 2016 Dec 6;122(23):3673-3681. Epub 2016 Aug 6.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Background: Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome characterized by a very high lifetime cancer risk and an early age at diagnosis of a wide cancer spectrum. Precise estimates for the risk of first and subsequent cancers are lacking.

Methods: The National Cancer Institute's Li-Fraumeni Syndrome Study includes families meeting the diagnostic criteria for LFS or Li-Fraumeni-like syndrome, and individuals with a germline TP53 mutation, choroid plexus carcinoma, adrenocortical carcinoma, or ≥3 cancers. Herein, we estimated the cumulative risk and annual hazards for first and second cancers among TP53 mutation carriers (TP53 positive [TP53+]) using MATLAB statistical software.

Results: This study evaluated 286 TP53+ individuals from 107 families. The cumulative cancer incidence was 50% by age 31 years among TP53+ females and 46 years among males, and nearly 100% by age 70 years for both sexes. Cancer risk was highest after age 20 years for females, mostly due to breast cancer, whereas among males the risk was higher in childhood and later adulthood. Among females, the cumulative incidence rates by age 70 years for breast cancer, soft tissue sarcoma, brain cancer, and osteosarcoma were 54%, 15%, 6%, and 5%, respectively. Among males, the incidence rates were 22%, 19%, and 11%, respectively, for soft tissue sarcoma, brain cancer, and osteosarcoma. Approximately 49% of those with 1 cancer developed at least another cancer after a median of 10 years. The average age-specific risk of developing a second cancer was comparable to that of developing a first cancer.

Conclusions: The cumulative cancer risk in TP53 + individuals was very high and varied by sex, age, and cancer type. Additional work, including prospective risk estimates, is needed to better inform personalized risk management. Cancer 2016;122:3673-81. © 2016 American Cancer Society.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/cncr.30248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115949PMC
December 2016

Research participant interest in primary, secondary, and incidental genomic findings.

Genet Med 2016 12 21;18(12):1218-1225. Epub 2016 Apr 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

Purpose: To define the frequency with which adult research participants consent to be offered clinically validated research genetic test results (RR) and incidental findings (IF).

Methods: Consents were obtained from 506 adults enrolled in one of three studies within the National Cancer Institute Clinical Genetics Branch's Familial Cancer Research Program. A cross-sectional analysis was performed involving the choices indicated on study consents regarding receipt of RR and IF.

Results: Ninety-seven percent opted to receive RR and IF. Participants who declined (n = 16) included two cancer survivors who were mutation-positive (1 = RR and 1 = both), eight who knew their primary mutation status (3 = RR; 4 = IF; 1 = both), three nonbloodline relatives (1 = RR; 2 = both), one untested but with the syndromic phenotype (1 = IF), and two parents of an affected child (2 = both). We speculate that these individuals either already had sufficient information, were not prepared to learn more, or felt that the information would not change their personal health-care decision making.

Conclusions: Adult research participants from families at high genetic risk for cancer overwhelmingly indicated their preference to receive both RR and IF. Future research will seek to identify the reasons for declining RR and IF and to study the impact of receipt of RR and IF on personal medical decision making.Genet Med 18 12, 1218-1225.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074919PMC
http://dx.doi.org/10.1038/gim.2016.36DOI Listing
December 2016

Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.

J Genet Couns 2016 06 30;25(3):529-42. Epub 2015 Nov 30.

Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.

This study presents findings of a mixed-method descriptive exploration of the role of friends and spirituality/religiosity in easing the burden of families with the rare inherited disorder, Li-Fraumeni Syndrome (LFS). LFS is caused by germline mutations in the TP53 gene and is associated with very high lifetime risk of developing one or more malignancies. During the first clinical visit we assessed several types of social support among a subset of study participants (N = 66) using an established interactive research tool called the Colored Eco-Genetic Relationship Map (CEGRM). We performed both quantitative and qualitative analyses of social relationships with LFS family members and close non-kin. Distress scores (N = 59) were mostly low normal, with some outliers. We found that reported friendships varied widely, that the friendships were often deep and enduring, and were important sources of informational, tangible, emotional and spiritual support. Confidantes tended to be best friends and/or spouses. Organized religion was important in selected families, typically from mainstream traditions. However, a number of people identified themselves as "spiritual" and reported spiritual and humanist explorations. Our results shed preliminary light on how some people in families with LFS cope in the face of tremendous medical, social and emotional challenges.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-015-9905-xDOI Listing
June 2016

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

J Genet Couns 2015 Oct 27;24(5):760-70. Epub 2014 Dec 27.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders' rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49-59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9807-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485598PMC
October 2015

Familial testicular germ cell tumor: no associated syndromic pattern identified.

Hered Cancer Clin Pract 2014 Feb 21;12(1). Epub 2014 Feb 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Background: Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT.

Methods: We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies.

Results: The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected.

Conclusions: Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/1897-4287-12-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937045PMC
February 2014

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

Cancer Genet 2012 Oct 29;205(10):479-87. Epub 2012 Aug 29.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergen.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3593717PMC
October 2012

Close ties: an exploratory Colored Eco-Genetic Relationship Map (CEGRM) study of social connections of men in Familial Testicular Cancer (FTC) families.

Hered Cancer Clin Pract 2012 Mar 1;10. Epub 2012 Mar 1.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, 6120 Executive Blvd, Rockville, MD, 20852 USA.

Background: Testicular cancer, while rare compared with other adult solid tumors, is the most common cancer in young men in northern Europe and North America. Risk factors include white race, positive family history, contralateral testicular cancer, cryptorchidism, infertility and testicular microlithiasis. As the genetic causes of familial clusters (Familial Testicular Cancer or FTC) are being sought, it is also important to understand the psycho-social experiences of members of FTC families.

Methods: This is a cross-sectional examination via the Colored Eco-Genetic Relationship Map (CEGRM) of social connections reported by 49 men in FTC families participating in NCI research study 02-C-178.

Results: The CEGRM was acceptable and feasible for use with men in FTC families, and valuable in understanding their social connections. These men have largely adjusted to the TC history in themselves and/or their relatives. They have considerable social and emotional support from family and friends, although there is wide variability in sources and types.

Conclusions: The CEGRM focuses on men's social connections and close emotional bonds in FTC families. This action-oriented process of placing colored symbols on significant relationships uncovered previously under-appreciated emotions accompanying men's social exchanges. Most men in FTC families succeed in re-establishing a sense of normalcy in their lives and social connections, in the aftermath of a testicular cancer diagnosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/1897-4287-10-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3323467PMC
March 2012

Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

J Genet Couns 2012 Apr 2;21(2):151-61. Epub 2011 Dec 2.

Southeast Nebraska Cancer Center, Lincoln, NE, USA.

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-011-9462-xDOI Listing
April 2012

Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families.

J Genet Couns 2011 Oct 6;20(5):450-64. Epub 2011 May 6.

Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Rockville, MD 20852, USA.

Family communication is essential for accurate cancer risk assessment and counseling; family blockers play a role in this communication process. This qualitative analysis of social exchanges is an extension of earlier work characterizing those who are perceived by study participants as health information gatherers, disseminators, and blockers within families with Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. Eighty-nine women, ages 23-56 years, enrolled in a Breast Imaging Study (BIS) and participated in a sub-study utilizing a social assessment tool known as the Colored Ecological Genetic Relational Map (CEGRM). Purposive sampling ensured that participants varied according to numbers of participating family members e.g., ranging from 1 to 6. Eighty-nine women from 42 families (1-8 relatives/family) participated. They collectively designated 65 blockers, both male and female. Situational factors, beliefs, attitudes and cultural traditions, privacy and protectiveness comprised perceived reasons for blocking intra-family health communications. Longitudinal data collected over 4 years showed families where blocking behavior was universally recognized and stable over time, as well as other families where blocking was less consistent. Self-blocking was observed among a significant minority of participating women. Blocking of health communications among family members with HBOC was variable, complex, and multifaceted. The reasons for blocking were heterogeneous; duration of the blocking appeared to depend on the reasons for blocking. Blocking often seemed to involve bi-directional feedback loops, in keeping with Lepore's Social Constraints and Modulation Theory. Privacy and protectiveness predominated as explanations for long-term blocking.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-011-9370-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412366PMC
October 2011

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Br J Haematol 2010 Jul 30;150(2):179-88. Epub 2010 Apr 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852-7231, USA.

Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS). Adverse events include severe bone marrow failure (BMF), myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML), and solid tumours (ST). The natural history of FA is well characterised; hazard rates in the other syndromes have not yet been quantified. An open cohort was established at the National Cancer Institute (NCI) in 2002. Patients enrolled prior to December, 2007 were followed up to December, 2008. Diagnoses were confirmed with standard tests. Age-associated risks of adverse events were calculated. Most patients in each syndrome survived to young adulthood. Patients with FA had earlier onset of cancers, need for stem cell transplant, and death; followed by DC; DBA and SDS were mildest. While FA and DC patients had markedly increased risks of cancer, AML and MDS, there were no cases of leukaemia in DBA or SDS patients. The NCI cohort provides the first direct quantitative comparison of timing and magnitude of cancer risk in the IBMFS. The findings demonstrate that both FA and DC are major cancer susceptibility syndromes. The IBMFS, historically considered paediatric disorders, have important management implications for physicians treating adult patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2141.2010.08212.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125983PMC
July 2010

Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype.

Endocr Relat Cancer 2010 Jun 8;17(2):R109-21. Epub 2010 Mar 8.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20852, USA.

Familial aggregations of testicular germ cell tumor (FTGCT) have been well described, suggesting the existence of a hereditary TGCT subset. Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to sixfold and eight- to tenfold increases in TGCT risk respectively. Segregation analyses suggest an autosomal recessive mode of inheritance. Linkage analyses have identified several genomic regions of modest interest, although no high-penetrance cancer susceptibility gene has been mapped yet. These data suggest that the combined effects of multiple common alleles, each conferring modest risk, might underlie familial testicular cancer. Families display a mild phenotype: the most common number of affected families is 2. Age at diagnosis is 2-3 years younger for familial versus sporadic cases. The ratio of familial seminoma to nonseminoma is 1.0. FTGCT is more likely to be bilateral than sporadic TGCT. This syndrome is cancer site specific. Testicular microlithiasis is a newly recognized FTGCT component. Candidate gene-association studies have implicated the Y chromosome gr/gr deletion and PDE11A gene mutations as genetic modifiers of FTGCT risk. Two genomewide association studies of predominantly sporadic but also familial cases of TGCT have implicated the KIT-ligand, SPRY4, and BAK1 genes as TGCT risk modifiers. All five loci are involved in normal testicular development and/or male infertility. These genetic data provide a novel insight into the genetic basis of FTGCT, and an invaluable guide to future TGCT research.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1677/ERC-09-0254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101798PMC
June 2010

Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions.

Am J Public Health 2009 Dec 15;99(12):2203-9. Epub 2009 Oct 15.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Building 31, Room B1B37D, 31 Center Drive-MSC 2073, Bethesda, MD 20892, USA.

Objectives: Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer.

Methods: A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers.

Results: Gatherers of information were more often female (P<.001), parents (P<.001), and emotional support providers (P<.001). Disseminators were more likely female first- and second-degree relatives (both P<.001), family members in the older or same generation as the participant (P<.001), those with a cancer history (P<.001), and providers of emotional (P<.001) or tangible support (P<.001). Blockers tended to be spouses or partners (P<.001) and male, first-degree relatives (P<.001).

Conclusions: Our results provide insight into which family members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2105/AJPH.2008.154096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775786PMC
December 2009

Factors associated with testicular self-examination among unaffected men from multiple-case testicular cancer families.

Hered Cancer Clin Pract 2009 May 29;7(1):11. Epub 2009 May 29.

Division of Population Sciences, Moffitt Cancer Center, Tampa, Flordia, USA.

Background: The lifetime testicular cancer (TC) risk in the general population is relatively low (~1 in 250), but men with a family history of TC are at 4 to 9 times greater risk than those without. Some health and professional organizations recommend consideration of testicular self-examination (TSE) for certain high-risk groups (e.g. men with a family history of TC). Yet little is known about factors associated with TSE behaviors in this at-risk group.

Methods: We collected information on this subject during an on-going NCI multidisciplinary, etiologically-focused, cross-sectional Familial Testicular Cancer (FTC) study. We present the first report specifically targeting TSE behaviors among first- and second-degree relatives (n = 99) of affected men from families with >/= 2 TC cases. Demographic, medical, knowledge, health belief, and psychological factors consistent with the Health Belief Model (HBM) were evaluated as variables related to TSE behavior, using chi-square tests of association for categorical variables, and t-tests for continuous variables.

Results: For men in our sample, 46% (n = 46) reported performing TSE regularly and 51% (n = 50) reported not regularly performing TSE. Factors associated (p < .05) with regularly performing TSE in multivariate analysis were physician recommendation and testicular cancer worry. This is the first study to examine TSE in unaffected men from FTC families.

Conclusion: The findings suggest that, even in this high-risk setting, TSE practices are sub-optimal. Our data provide a basis for further exploring psychosocial issues that are specific to men with a family history of TC, and formulating intervention strategies aimed at improving adherence to TSE guidelines.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/1897-4287-7-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696412PMC
May 2009

All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative.

Am J Med Genet A 2008 Nov;146A(21):2719-24

Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.

Ethical assessments of clinical decisions are typically based on the preferences and interests of the individual patient. However, some clinical interventions, such as genetic testing or organ donation, may involve multiple family members. In these cases, one family member may have the potential to benefit, while another family member is exposed to potential physical or psychological risk. In the research setting, the balancing of benefits and risks between family members may be further complicated by uncertainty about their magnitude and likelihood. In addition, when the individual facing these apparently uncompensated risks is a child, the situation becomes particularly ethically complicated, as we appreciated in a recent case. Investigators at the National Cancer Institute were faced with a decision about whether it would be appropriate to disclose apparently "unwanted" research test results (length of telomeres in leukocyte subsets) to an adolescent about risk of future disease (dyskeratosis congenita), possibly causing psychological harm and an ethical wrong. These issues were not expected at the outset of the family's study participation but rather emerged with new data about the research tests. Disclosure of the research finding was an important consideration in order to avoid using the adolescent as a stem-cell donor for his sister. Disclosure to the adolescent could not be justified by merely considering the immediate interests and preferences of the adolescent. However, an expanded ethical analysis that considers the adolescent's familial context offers a more complete picture of the adolescent's interests and preferences which provides justification for disclosure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143002PMC
November 2008

BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experience.

Health Expect 2008 Sep;11(3):220-31

Department of Health and Human Services, National Institute of Nursing Research, NIH, Rockville, MD, USA.

Background: When women from families with a known BRCA1 or BRCA2 mutation test negative for the family mutation, it is assumed that they will transition their personal cancer risk perception from high to average risk. However, there are scant data regarding the experience of mutation-negative women after genetic testing disclosure, particularly related to the shift of risk perception from assumed mutation-positive to actual mutation-negative. This study was designed to explore cancer risk perception and the experience of being a mutation-negative woman within a known BRCA1/2 mutation-positive family.

Methods: We employed a qualitative descriptive design and convened a sample of 13 women who contributed in-depth, semi-structured telephone interviews (audio-recorded and transcribed verbatim) and performed qualitative content analysis with NVivo 2.0 software.

Results: Six major content areas emerged from interview data: (i) rationale for initial involvement in the breast imaging study, (ii) rationale for continued participation, (iii) experience of living in a multiple-case family, (iv) risk perception: the personal meaning of mutation-negative status, (v) opinions regarding cancer aetiology and (vi) communication patterns between mutation-negative and mutation-positive family members.

Conclusions: Living in a hereditary breast and ovarian cancer family is a complex experience that affects cognitive, emotional and social functioning. Our findings indicate that mutation-negative women may have unmet psychosocial needs that must be addressed by health-care professionals, particularly in the primary-care setting following genetic disclosure of a potentially reassuring result regarding their lack of the very high cancer risks associated with BRCA1/2 mutations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1369-7625.2008.00494.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2803025PMC
September 2008

Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-being.

Psychooncology 2008 Aug;17(8):812-21

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Objective: We investigated the association between psychological distress and indices of social integration and communal coping among sisters from hereditary breast and ovarian cancer (HBOC) families.

Sample And Methods: Sixty-five sisters from 31 HBOC families completed the Brief Symptom Inventory-18 and the Colored Eco-Genetic Relationship Map, which identified members of participants' social support networks. Hierarchical linear models were used for all analyses to account for the clustering of sisters within families.

Results: Intra-family correlation coefficients suggested that sisters shared perceptions of breast cancer risk and worry, but not ovarian cancer risk and worry. Further, sisters demonstrated shared levels of anxiety and somatization, but not depressive symptoms. Communal coping indices quantifying shared support resources were negatively related to anxiety and somatization. The number of persons with whom cancer risk information was shared exhibited a positive trend with somatization. Social integration, as measured by the size of participants' emotional support network, was negatively associated with anxiety. Lower depression scores were observed among participants with more persons playing multiple support roles and fewer persons providing tangible assistance.

Conclusion: Understanding how support relationships impact well-being among persons adjusting to HBOC risk, and the particular role of family in that process, will facilitate developing appropriate management approaches to help cancer-prone families adjust to their cancer risk.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/pon.1373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125979PMC
August 2008

Testicular cancer and genetics knowledge among familial testicular cancer family members.

J Genet Couns 2008 Aug 15;17(4):351-64. Epub 2008 May 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, 6120 Executive Blvd., EPS 7026, Rockville, MD 20852, USA.

Purpose: It was our aim to determine baseline levels of testicular cancer and genetics knowledge among members of families with Familial Testicular Cancer (FTC).

Methods: This is a sub-study of an ongoing National Cancer Institute (NCI) multidisciplinary, etiologically-focused, cross-sectional study of FTC. We evaluated 258 male and female participants including testicular cancer (TC) survivors, blood relatives and spouses to assess factors associated with a Genetic Knowledge Scale (GKS) and Testicular Cancer Knowledge Scale (TCKS).

Results: Knowledge levels were generally low, with genetic knowledge lower than TC knowledge (p < 0.01). Men with a personal TC history scored highest on TC knowledge, while gender, age and education differentially influenced knowledge levels, particularly among unaffected relatives.

Conclusions: Prior to identifying FTC susceptibility genes, we recommend tailoring FTC genetic education to the different informational needs of TC survivors, their spouses and relatives, in preparation for the day when clinical susceptibility testing may be available.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-008-9153-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111072PMC
August 2008

Complementary and alternative medicine use among women at increased genetic risk of breast and ovarian cancer.

BMC Complement Altern Med 2008 Apr 30;8:17. Epub 2008 Apr 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Background: Complementary and alternative medicine (CAM) use is well documented among breast cancer patients and survivors, but little evidence is available to describe rates and patterns of use among women at increased genetic risk of breast cancer.

Methods: A pre-visit telephone interview was conducted to ascertain CAM use among the BRCA mutation carriers enrolled in a high-risk breast cancer screening study. Participants were asked to report on their use of thirteen therapies within the year prior to enrollment into the study. Logistic regression was used to evaluate the association between various factors and CAM use in this population.

Results: Among the 164 BRCA1 or BRCA2 mutation-positive (BRCA+) women in this analysis, 78% reported CAM use, with prayer and lifestyle diet being the two most commonly reported modalities. Many subjects used multiple CAM therapies, with 34% reporting use of three or more modalities. The most commonly used modalities were mind-body therapies and biologically-based practices, 61.6% and 51.8%, respectively. High-risk women were more likely to use CAM if they were older, more educated, more worried about ovarian cancer risk, or had a previous cancer diagnosis.

Conclusion: This study suggests that the prevalence of CAM use is high among BRCA mutation carriers, with frequency of use comparable to that of breast cancer patients and survivors. Given the high prevalence of CAM use in our subjects, especially biologically-based therapies including herbal supplements, whose safety and efficacy in relation to cancer risk are unknown, our study suggests that future research is necessary to clarify these risks, and that it is important for providers to inquire about and to discuss the pros and cons of CAM use with their BRCA+ patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/1472-6882-8-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2391138PMC
April 2008

Disclosure of Positive -Mutation Status in Young Couples: The Journey From Uncertainty to Bonding Through Partner Support.

Fam Syst Health 2008 ;26(3):296-316

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health;

BRCA1/2-positive women who learn their mutation status early in the life-course face unique challenges related to navigating the tasks of young adulthood. Using qualitative methods and grounded theory, the authors analyzed in-depth interviews with 11 women aged 26 to 35 who learned their mutation status before marriage. Their narratives illustrate the complexity of relationship formation, and highlight the potential for relationship-bonding and intimacy-building in the course of sharing mutation information. Disclosing BRCA mutation status to dating partners is often preceded by feelings of fear and anxiety, yet many participants reported that doing so has positive effects on relationships. Partners' abilities to respond with interest, empathy, and affection are associated with in creased future intimacy, consistent with generally accepted principles within the family/couple systems field. Individual cancer risk perception and familial cancer experiences may affect the disclosure experience, which can be understood via Attachment Theory. Our findings provide clinical insight, identify new areas for research, and suggest ways to assist this unique population in their adjustment to being BRCA mutation-positive.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1037/a0012914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131236PMC
January 2008

Constitutional cytogenetic analysis in men with hereditary testicular germ cell tumor: no evidence of disease-related abnormalities.

Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2791-4

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, 6120 Executive Boulevard, EPS 7101, Rockville, MD 20852-7231, USA.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-07-0521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125977PMC
December 2007

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Blood 2007 Sep 27;110(5):1439-47. Epub 2007 Apr 27.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852-7231, USA.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. We used multicolor flow fluorescence in situ hybridization analysis of median telomere length in total blood leukocytes, granulocytes, lymphocytes, and several lymphocyte subsets to confirm the diagnosis of DC, distinguish patients with DC from unaffected family members, identify clinically silent DC carriers, and discriminate between patients with DC and those with other bone marrow failure disorders. We defined "very short" telomeres as below the first percentile measured among 400 healthy control subjects over the entire age range. Diagnostic sensitivity and specificity of very short telomeres for DC were more than 90% for total lymphocytes, CD45RA+/CD20- naive T cells, and CD20+ B cells. Granulocyte and total leukocyte assays were not specific; CD45RA- memory T cells and CD57+ NK/NKT were not sensitive. We observed very short telomeres in a clinically normal family member who subsequently developed DC. We propose adding leukocyte subset flow fluorescence in situ hybridization telomere length measurement to the evaluation of patients and families suspected to have DC, because the correct diagnosis will substantially affect patient management.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2007-02-075598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1975834PMC
September 2007

Familial testicular cancer: interest in genetic testing among high-risk family members.

Genet Med 2006 Dec;8(12):760-70

Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), DHHS, Rockville, Maryland 20852, USA.

Purpose: This study is part of an ongoing National Cancer Institute multidisciplinary, etiologically-focused, cross-sectional study of Familial Testicular Cancer (FTC). The current report targets interest in clinical genetic testing for susceptibility to FTC.

Methods: Demographics, knowledge, health beliefs, and psychological and social factors were evaluated as covariates related to interest in genetic testing.

Results: The majority (66%) of 229 participants (64 affected men, 66 unaffected men, and 99 women) from 47 multiple-case FTC families expressed interest in having a genetic test within 6 months, should such a test become available. Interest was similar among the three subgroups mentioned above. Worries about insurance discrimination based on genetic test results were associated with a significantly lower interest in testing. Alternatively, participants were more likely to be interested in genetic testing if they were younger and had higher levels of family support, a physician's recommendation supporting testing, cancer distress, and a need for information to inform the health care of their children.

Conclusions: This study reveals social and relationship factors that FTC survivors and their relatives considered important when contemplating the use of new genetic technologies. This is the first study describing hypothetical interest in genetic testing for familial testicular cancer.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000250506.15979.0cDOI Listing
December 2006

Evolution of the colored eco-genetic relationship map (CEGRM) for assessing social functioning in women in hereditary breast-ovarian (HBOC) families.

J Genet Couns 2006 Dec 17;15(6):477-89. Epub 2006 Nov 17.

Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Rockville, MD 20852, USA.

The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289-309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258-264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-006-9042-7DOI Listing
December 2006

Referral to cancer genetic counseling: are there stages of readiness?

Am J Med Genet C Semin Med Genet 2006 Nov;142C(4):221-31

Center for Medical Genetics, Evanston Northwestern Healthcare, 1000 Central Street, Evanston, IL 60201, USA.

As genetic awareness spreads among healthcare providers and the general public, and evidence mounts to show the efficacy of cancer control methods, referrals to cancer genetic counseling services for risk assessment are becoming more common. However, few studies have examined referral patterns to genetics and even less is known about referral uptake to clinical cancer genetic counseling. We investigated outcome of genetics referral in 43 affected women attending a breast cancer treatment program who were referred based on having BRCA mutation carrier risks > or =10%. Within 6 months, of the 36 women we were able to recontact, 13 (36%) came to an appointment at the cancer genetic counseling clinic (Acceptors), 10 (27%) said they intended to come in the future (Intenders), and 13 (36%) said they would not consider genetic counseling (Decliners). Referral uptake was framed by elements of the Transtheoretical model (TTM) to determine if decisional balance scores (DBSs), a summary of an individual's "Pro" and "Con" opinions related to genetic testing, correlated with their decision to follow through. Mean DBS's were strongly negative for the Decliner group (-7.4), weakly negative for the Intender group (-1.1), and positive for the Acceptor group (5.4). The difference in the DBS along the continuum was due more to the mean "Con" score decreasing, rather than the mean "Pro" score increasing. Theoretical frameworks are needed to study adherence to referral for cancer genetic counseling. Stage-based theories may have a role to play.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.30109DOI Listing
November 2006