Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research.

Various forms of private investment are considered necessary for the sustainability of biobanks, yet pose significant challenges to public trust. To manage this tension, it is vital to identify the concerns of relevant stakeholders to ensure effective and acceptable policy and practice. This research examines the aspects of commercialisation that are of most concern to the Australian public (n = 800) and patients who had donated their tissue to two large disease specific (cancer) public biobanks (n = 564). Overall, we found a commercialisation effect (higher support for public relative to private) in relation to funding, research location and access to stored biospecimens. The effect was strongest for research locations and access compared to funding. A latent class analysis revealed the pattern of concern differed, with the majority (34.1%) opposing all aspects of commercialisation, a minority supporting all (15.7%), one quarter (26.8%) opposing some (sharing and selling tissue) but not others (research locations and funding), and a group who were unsure about most aspects but opposed selling tissue (23.5%). Patient donors were found to be more accepting of and unsure about most aspects of commercialisation. Members of the (general) public who were motivated to participate in biobanking were more likely to oppose some aspects while supporting others, while those who indicated they would not donate to a biobank were more likely to oppose all aspects of commercialisation. The results suggest that approaches to policy, engagement and awareness raising need to be tailored for different publics and patient groups to increase participation.

When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals' views regarding disclosure of BRCA genetic cancer risk.

OBJECTIVES: Disclosure of a hereditary condition in the family poses notable challenges for patients who often seek the assistance of genetic health professionals (GHPs). This study aimed to investigate GHPs' opinions about the ideal time for disclosure to offspring and their responsibility to at-risk relatives. DESIGN: Cross-sectional qualitative study. SETTING: Genetic familial cancer clinics related to mostly secondary and tertiary care hospitals and centres in urban, regional and rural areas across all states of Australia. PARTICIPANTS: GHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with BRCA1 and BRCA2 families for an average of 9 years. RESULTS: Focus groups and interviews were transcribed and analysed thematically. GHPs perceived that life stage, maturity, parents' knowledge and capacity to disseminate information influenced parent-offspring disclosure. In general, GHPs recommended early informal conversations with offspring about a family illness. GHPs considered that facilitation of disclosure to relatives using counselling strategies was their responsibility, yet there were limitations to their role (eg, legal and resource constraints). Variability exists in the extent to which genetic clinics overcome challenges to disclosure. CONCLUSIONS: GHPs' views on the ideal time for the disclosure of genetic risk are generally dependent on the patient's age and relative's ability to disclose information. A responsibility towards the patient and their at-risk relative was widely accepted as a role of a GHP but views vary depending on legislative and specialty differences. Greater uniformity is needed in genetic procedural guidelines and the role of each discipline (eg, geneticists, genetic counsellors, oncologists, nurses and mental health specialists) in genetic clinics to manage disclosure challenges.

An alternative laboratory designed to address ethical concerns associated with traditional TAS2R38 student genotyping.

The TAS2R38 alleles that code for the PAV/AVI T2R38 proteins have long been viewed as benign taste receptor variants. However, recent studies have demonstrated an expanding and medically relevant role for TAS2R38. The AVI variant of T2R38 is associated with an increased risk of both colorectal cancer and Pseudomonas aeruginosa-associated sinus infection and T2R38 variants have been implicated in off-target drug responses. To address ethical concerns associated with continued student TAS2R38 gene testing, we developed an alternative to the traditional laboratory genotyping exercise. Instead of determining their own genotype, introductory level students isolated plasmid DNA containing a section of the human TAS2R38 gene from Escherichia coli. Following PCR-mediated amplification of a section of the TAS2R38 gene spanning the SNP at position 785, students determined their assigned genotype by restriction enzyme digestion and agarose gel electrophoresis. Using the course wide genotype and phenotype data, students found that there was an association between TAS2R38 genotype and the age of persistent P. aeruginosa acquisition in cystic fibrosis "patients." Assessment data demonstrated that students taking part in this new TAS2R38 laboratory activity made clear learning gains.

[SELECTED ETHICAL ISSUES IN ONCOGENETICS]. / QUESTIONS ÉTHIQUES CHOISIES EN ONCOGÉNÉTIQUE.

Oncogenetics is the medical care of families with hereditary cancer risk. Bioethics laws strictly control this activity. Taking into account the medical benefit and lives saved through oncogenetics when a constitutional mutation in hereditary cancer risk gene is found, the law requires that information is disseminated to the relatives. If the consultant cannot or will not provide this information, this is the geneticist who will contact the family. This is an unprecedented situation where the doctor encourages medical advices not requested by patients. The Clermont experience is shown on the application of the law and its practical difficulties. Currently the technology of molecular genetic diagnosis is changing rapidly and allows new diagnostics whether at the level of cancerous tumors or in the genome with the perspective that everyone can soon have the sequence of the entire genome with the interpretation of personal risk of cancer diseases or other kinds. It is necessary to better anticipate emerging ethical issues already raised by the first medical practices of these technologies.

Return of individual research results and incidental findings in the clinical trials cooperative group setting.

The National Cancer Institute (NCI)-funded cooperative group cancer clinical trial system develops experimental therapies and often collects samples from patients for correlative research. The cooperative group bank (CGB) system maintains biobanks with a current policy not to return research results to individuals. An online survey was created, and 10 directors of CGBs completed the surveys asking about understanding and attitudes in changing policies to consider return of incidental findings (IFs) and individual research results (IRRs) of health significance. The potential impact of the 10 consensus recommendations of Wolf et al. presented in this issue are examined. Reidentification of samples is often not problematic; however, changes to the current banking and clinical trial systems would require significant effort to fulfill an obligation of recontact of subjects. Additional resources, as well as a national advisory board would be required to standardize implementation.

A closer look revisited: are we subjects or are we donors?

The author offers personal reflections on the implications of the article "Managing Incidental Findings & Research Results in Genomic Research Involving Biobanks & Archived Datasets" in terms of how the article addresses serious knowledge disparities and differing expectations between participants and researchers.Genet Med 2012:14(4):458-460.

Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists.

If a hereditary predisposition to colorectal cancer or breast cancer is diagnosed, most guidelines state that clinical geneticists should request index patients to inform their at-risk relatives about the existence of this condition in their family, thus enabling them to consider presymptomatic genetic testing. Those identified as mutation carriers can undertake strategies to reduce their risk of developing the disease or to facilitate early diagnosis. This procedure of informing relatives through the index patient has been criticised, as it results in relatively few requests for genetic testing, conceivably because a certain number of relatives remain uninformed. This pilot study explored attitudes toward informing family members and relevant practices among clinical geneticists. In general, clinical geneticists consider it to be in the interests of family members to be informed and acknowledge that this goal is not accomplished by current procedures. The reasons given for maintaining present practices despite this include clinical 'mores', uncertainty about the legal right of doctors to inform family members themselves, and, importantly, a lack of resources. We discuss these reasons from an ethical point of view and conclude that they are partly uninformed and inconsistent. If informing relatives is considered to be in their best interests, clinical geneticists should consider informing relatives themselves. In the common situation in which index patients do not object to informing relatives, no legal obstacles prevent geneticists from doing so. An evaluation of these findings among professionals may lead to a more active approach in clinical practice.

Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.

Arrhythmogenic right ventricular cardiomyopathy, a lethal autosomal dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5). In the absence of implantable cardioverter defibrillator treatment, death rates are extremely high. Research into arrhythmogenic right ventricular cardiomyopathy (ARVD5) began in the 1980s and the causative gene and mutation were discovered in 2008. The decades of research highlighted major issues associated with the ethical management of genetic information and the translation of research findings to clinical care. We describe these issues and the strategies used in managing them. Effective knowledge transfer of the research information has resulted in systematic clinical and genetic screening coupled with genetic counseling and treatment for at-risk family members. Improved survival for patients has been one clear result of this strategy. Optimal care of families where individuals are at-high risk of inheriting a disease with high morbidity and mortality requires the full integration of both genetic research and clinical genetics programs. Although yet to be fully effected in our setting, our discussion highlights both the ethical necessity as well as some practical barriers in realizing this outcome.

Doença de Huntington: aspectos diagnósticos e implicações éticas / Huntington's disease: diagnostic aspects and ethical implications

Doença de Huntington é uma afecção neurodegenerativa de herança autosssômica dominante, caracterizada por manifestações neurológicas, neuropsiquiátricas e disfunções autonômicas. Não há tratamento para a doença, fato que levanta questões éticas importantes diante do impacto da confirmação diagnóstica e da possibilidade de um planejamento familiar. Paciente feminina, 68 anos, há três anos com movimentos coreicos de lábios, língua, mãos e pé esquerdo, disfagia, sintomas depressivos e comprometimento de funções cognitivas de média gravidade. A ressonância magnética de crânio apresentou alterações compatíveis com doença de Huntington. Foi realizada avaliação genética, após aconselhamento da pacientes e do familiar responsável, e confirmou-se a hipóstese aventada. O diagnóstico deve ser feito o mais breve possível a fim de diminuir o impacto na vida do portador e de sua família e permitir um planejamento familiar. São muitas dificuldades em lidar com a confirmação do diagnóstico, principalmente quando a autonomia do paciente está comprometida, portanto é fundamental esclarecimento e aconselhamento antes e após o teste.