Purpose: To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by "at-risk" relatives of probands. Methods: The Tasmanian Clinical Genetics Service implemented a specific counseling intervention to a cohort of patients who were diagnosed with a genetic condition with familial implications and compared this with a control cohort who had not experienced the specific counseling intervention. The study involved 150 family members in 19 different kindreds across the two cohorts. The principal outcome measure was the proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis in the index patient. Results: The proportion of at-risk relatives who made contact with the genetics service was 61% in the intervention cohort compared with 36% in the control cohort (P ϭ 0.01).After controlling for the gender of the at-risk relatives, relatives in the intervention cohort were 2.6 times more likely to make contact with the genetics service (P ϭ 0.02). Key Words: genetic testing, genetic counseling, family communication, genetic information, at-risk relativesThe diagnosis of an inherited genetic condition in an individual results in the identification of at-risk relatives. Guidelines encourage genetic health professionals involved in the care of these individuals to discuss with them the implications for other relatives 1 with the desired outcome being that relatives are informed of their risk. Whether this family communication actually occurs has been questioned, because of a lack of relatives presenting to genetic services for care. 2 Previous research on how families communicate genetic information has demonstrated that first-degree relatives are most commonly informed in comparison with second-and third-degree relatives who are informed less frequently. [3][4][5][6][7] Communication is often undertaken by women 8 and may follow gender lines, especially for familial breast and ovarian cancer and for X-linked conditions. 9 -11 Information is more likely to be disseminated to relatives who are socially or emotionally close to one another 4 ; however, individuals often report feeling a "moral obligation" to inform relatives in general. 12 A common pattern of communication described in families is where the genetic information is passed on to a "head of the family" who then takes responsibility for informing the younger generations. 2 Genetic information can be an abstract idea to comprehend and a difficult task to communicate without formal training. This problem, in conjunction with preexisting familial issues and patterns of communication within families, can reduce the efficacy of the dissemination of genetic information. 12 Consultands who are faced with the task of communicating may be hindered because of feeling guilty about passing on what may be perceived as bad news to relatives. 2 Other barriers encountered in families include relatives who are sick or pregnant, where a relative has died, or w...
Individualized screening is our logical next step to improve population breast cancer screening in Australia. To explore breast screening participants' views of the current program in Victoria, Australia, examine their openness to change, and attitudes toward an individualized screening model, this qualitative work was performed from a population-based breast screening cohort. This work was designed to inform the development of a decision aid to facilitate women's decisions about participating in individualized screening, and to elicit Australian consumer perspectives on the international movement toward individualized breast screening. A total of 52 women participated in one of four focus groups, and were experienced with screening with 90% of participants having had more than three mammograms. Focus group discussion was facilitated following three main themes: (i) experience of breast screening; (ii) breast cancer risk perception, and (iii) views on individualized screening. Participants had strong, positive, emotional ties to breast screening in its current structure but were supportive, with some reservations, of the idea of individualized screening. There was good understanding about the factors contributing to personalized risk and a wide range of opinions about the inclusion of genetic testing with genetic testing being considered a foreign and evolving domain. Individualized breast screening that takes account of risk factors such as mammographic density, lifestyle, and genetic factors would be acceptable to a population of women who are invested in the current system. The communication and implementation of a new program would be critical to its acceptance and potential success. Reservations may be had in regards to uptake of genetic testing, motivations behind the change, and management of the women allocated to a lower risk category.
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