Biomedical subjects

Clara L Gaff

Publications and source records attributed to Clara L Gaff.

9 recordsLinked to original sources

PubMed2006

Predictive testing of eighteen year olds: counseling challenges.

Genetic counseling of teenagers is challenging and complex. The ability to think abstractly, a sense of self and independence from family all develop during adolescence. Predictive genetic testing counseling protocols presuppose that these qualities exist, requiring the at-risk individual to consider the short and long term consequences of testing as well as their motivations. Eighteen year olds are in transition from adolescence to adulthood; eligible for predictive genetic testing, they may not yet be independent of their family or able to articulate their feelings. This paper presents case studies from the authors' clinical practice to illustrate some of the difficulties faced by genetic counselors when 18 year olds request predictive testing for Hereditary Non-Polyposis Colorectal Cancer. By reflecting upon their experiences with these young adults and their families, the authors' intention is to generate discussion about genetic counseling strategies, particularly for predictive genetic testing, that are both age-appropriate and family-sensitive.

Adolescent↗

PubMed2006

Genetic services for men: the preferences of men with a family history of prostate cancer.

PURPOSE: Men have a lower uptake of genetic services than women; however, the specific needs and preferences of men at risk of genetic conditions other than hereditary breast ovarian cancer are not known. We ascertain the information preferences of men with a family history of prostate cancer. METHODS: Unaffected men and their partners were administered a written questionnaire. RESULTS: Responses were received from 280 men (response rate: 59.2%) and 174 partners (response rate: 74%). Most men (59.6%) reported having insufficient information about their risk and wanted further information about personal risk (93.2%) and risk management (93.6%). Strikingly, 56.3% preferred to receive information related only to positive outcomes. Urologists were the preferred source of information, but there was considerable interest in a multidisciplinary service approach significantly associated with the number of affected relatives (odds ratio = 1.94, P < .002). Partners' level of concern was not associated with interest in multidisciplinary services, satisfaction with information, or support received. CONCLUSIONS: Delivering services to men at risk will require a multifaceted approach by primary care providers and specialists. Challenges include meeting men's expectations in the face of uncertain medical knowledge, engaging those at high risk in multidisciplinary services, and delivering tailored information to those at lower risk.

Adult↗

PubMed2005

Facilitating family communication about predictive genetic testing: probands' perceptions.

The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.

Adult↗

PubMed2004

Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families.

BACKGROUND: Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer. Recently a heterozygous variant in the ataxia-telangiectasia mutated (ATM) gene, IVS10-6T-->G, was reported by an Australian multiple-case breast cancer family cohort study (the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer) to confer a substantial breast cancer risk. Although this variant can result in a truncated ATM product, its clinical significance as a high-penetrance breast cancer allele or its role as a low-penetrance risk-modifier is controversial. METHODS: We determined the frequency of ATM IVS10-6T-->G variants in a cohort of individuals affected by breast and/or ovarian cancer who underwent BRCA1 and BRCA2 genetic testing at four major Australian familial cancer clinics. RESULTS: Seven of 495 patients (1.4%) were heterozygous for the IVS10-6T-->G variant; the carrier rate in unselected Australian women with no family history of breast cancer is reported to be 6 of 725 (0.83%) (P = 0.4). Two of the seven probands also harboured a pathogenic BRCA1 mutation and one patient had a BRCA1 unclassified variant of uncertain significance. CONCLUSION: These findings indicate that the ATM IVS10-6T-->G variant does not seem to occur at a significantly higher frequency in affected individuals from high-risk families than in the general population. A role for this variant as a low-penetrance allele or as a modifying gene in association with other genes (such as BRCA1) remains possible. Routine testing for ATM IVS10-6T-->G is not warranted in mutation screening of affected individuals from high-risk families.

Adult↗

PubMed2004

Accuracy and completeness in reporting family history of prostate cancer by unaffected men.

OBJECTIVES: To determine the accuracy of prostate cancer reports and completeness of the family history provided by unaffected men with a family history of prostate cancer. A positive family history is associated with increased prostate cancer risk and could influence surveillance recommendations and patient selection for genetic testing in the future. However, the accuracy of prostate cancer reports and completeness of the family history provided by unaffected men is poorly understood. METHODS: Eligible respondents were ascertained through participation in a population-based study of prostate cancer. The family history was collected by questionnaire and compared with the verified research pedigree. Information about the family history was also independently collected from spouses. A standard statistical method was used to determine the variables associated with accuracy and failure to report cases. RESULTS: A total of 154 unaffected men (51%) responded. Most (82%) reports of prostate cancer cases were verified. Overall, 63% reported a family history that precisely matched the verified family history. The respondents' wives contributed little additional information. Age and degree of relationship to an affected person were associated with both accuracy and completeness of the family history. Verification altered the empirical risk category of 29% of the respondents; however, most (93%) remained at increased risk. CONCLUSIONS: Unaffected men with a family history of prostate cancer generally provide a reliable family history. We conclude that surveillance advice can be reasonably based on a man's reported family history. However, the identification of certain high-risk individuals, which may be relevant for selection for genetic testing in the future, requires more extensive ascertainment of the family history.

Adult↗

PubMed2004

Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study.

Research on the utilization of genetic testing services for mutations in BRCA1 and BRCA2 has focused on women with a strong family history of breast and ovarian cancer. We conducted a population-based case-control-family study of Australian women diagnosed with invasive breast cancer before age 40 years, unselected for family history, and tested for germ line mutations in BRCA1 and BRCA2. Case subjects found to carry a deleterious mutation and their relatives who had given a research blood sample were informed by mail that the study had identified "genetic information" and were offered the opportunity to learn more. Those interested were referred to a government-funded family cancer clinic. Of 94 subjects who received the letter, 3 (3%) did not respond and 38 (40%) declined to learn their result (16 declined the referral, 10 accepted but did not attend a clinic, and 12 attended a clinic but declined testing), and 12 (13%) remain "on hold." The remaining 41 (44%) chose to learn their result (3 of whom already knew their mutation status). There was no evidence that the decision to learn of mutation status depended on age, gender, family history, or having been diagnosed with breast cancer. Of 19 families with more than one participant, in 11 (58%) there was discordance between relatives in receiving genetic results. Although in Australia genetic testing is offered free of charge and insurance issues are not a major consideration, we found considerable reluctance, indecision, and unexplained variability both between and within case families in the desire to know their mutation status.

Adult↗

PubMed2003

"Cancer in the family" and genetic testing: implications for life insurance.

The potential for discrimination when applying for insurance can be of concern for individuals with a family history of cancer or of a genetic disorder and who are considering genetic counselling or genetic testing. The actual incidence of "genetic discrimination", however, is not known, despite considerable media coverage of this issue. The clinical details required by insurers have received less attention. We obtained primary application and personal statement forms used by 21 different underwriters of voluntary life insurance and found substantial differences in the information requested about family history and genetic testing. All insurance applications, however, contained a duty of disclosure that would require revealing the result, if known by the applicant, of a genetic test in a family member. Therefore, decisions made by family members can affect insurance applications, and people considering genetic testing may also need to consider the implications of the results for other family members. Health practitioners should balance the potential benefits of appropriate genetic testing against potential restriction to life and income-protection insurance when advising people about genetic testing.

Australia↗

PubMed2003

Working in partnership with support services in the era of the "new genetics".

Patient care in the "new genetics" era encompasses not only the diagnosis of a genetic condition or risk, but also managing the psychosocial, familial and ethical sequelae. Partnerships between the medical professional and expert clinical genetics services, support groups, registries and genetics education services provide a framework for this management. More than 750 Australian support groups assist individuals and families with genetic conditions through contact with peers, information and education resources for patients and professionals, practical advice about coping and advocacy.

Counseling↗

PubMedDate not supplied

Identifying clients who might benefit from genetic services and information.

This article is the first in a series of seven which examine competence standards for nurses, midwives and health visitors in relation to genetics. The author indicates who might benefit from a genetic consultation and describes the use of a family history--in the form of a family tree--to identify these clients. Client expectations of a genetic consultation and managing these are also discussed.

Congenital Abnormalities↗