Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.

Eighty-one subjects (56 affected patients and 25 parents of isolated affected cases) from 63 families with neurofibromatosis type 1 (NF1) on the North Western Regional Genetic Family Register (NWRGFR) were interviewed. Patients were interviewed either before (n = 26) or after (n = 55) genetic counselling. In the group as a whole, knowledge of the clinical features and the genetic aspects of the condition was poor (mean score 7 within the range of 0 to 18). The following factors were significantly associated with higher knowledge: (1) genetic counselling, (2) higher social class, (3) child with NF1, (4) when NF1 had influenced reproductive decisions, (5) young age at diagnosis, and (6) member of a patient support group. The majority of the affected subjects perceived themselves to be more severely affected than by medical classification, with persons who had been diagnosed later in life, had a child with NF1, or who were concerned about the cosmetic aspects of the disease perceiving themselves to be more severely affected. Assessment of the psychosocial effects of NF1 at different stages of life showed that 63% of affected subjects experienced difficulties at school and 48% said that the condition, particularly cosmetic aspects, caused anxiety during adolescence (n = 54). These difficulties may have contributed to later problems with career attainment and confidence in relationships. Seventy-seven percent of parents stated that their child was experiencing difficulties at school relating to NF1 (n = 51). Of the subjects at risk of having a child with NF1 and who knew about NF1 before having their family (n = 32), 45% said that it had influenced their reproductive decisions. Of 29 subjects who were still considering children, 41% wished to have prenatal diagnosis in a future pregnancy, but only three subjects stated that they would terminate an affected pregnancy

The Perceived Advantages and Disadvantages of Presymptomatic Testing for Machado-Joseph Disease: Development of a New Self-Response Inventory

This study describes the construction of a self-response inventory to evaluate the perception of advantages and disadvantages of the Machado-Joseph disease presymptomatic testing, in 44 individuals at-risk for this disease. The results showed that the reliability of this inventory was satisfactory. Factor analysis revealed a bidimensional structure: perceived advantages (pros) and perceived disadvantages (cons) of presymptomatic testing. Social desirability was found unrelated to the total scores of our inventory. Additional correlation studies, with other scales, confirmed the convergent validity of the instrument. These results suggest adequate construct validity. This inventory thus seems to be a proper instrument to assess expectations involved in the decision-making process of Machado-Joseph disease presymptomatic testing

Genome-based health literacy : a new challenge for public health genomics

So far health literacy has not been sufficiently discussed in the context of public health genomics. Primarily, not genomic but rather genome-based health information needs to be addressed taking into account genome-environment interactions and integrating all health determinants including genomics into a systemic and holistic approach. Translating findings from epigenomics and systems biomedicine will help to understand that individual biological pathways or networks are permanently interacting with environmental networks such as social networks. Thus, in the end also health literacy will become personalized. Genome-based health literacy is challenged by the question of which information is relevant for the individual, for what purpose, and at what time during the lifespan. Public health tools and expertise already in place can and should be used to tackle these huge challenge

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice