Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine.

Advances in human genetics raise many social and ethical issues. The application of genomic technologies to healthcare has raised many questions at the level of the individual and the family, about conflicts of interest among professionals, and about the limitations of genomic testing. In this paper, we attend to broader questions of social justice, such as how the implementation of genomics within healthcare could exacerbate pre-existing inequities or the discrimination against social groups. By anticipating these potential problems, we hope to minimise their impact. We group the issues to address into six categories: (i) access to healthcare in general, not specific to genetics. This ranges from healthcare insurance to personal behaviours. (ii) data management and societal discrimination against groups on the basis of genetics. (iii) epigenetics research recognises how early life exposure to stress, including malnutrition and social deprivation, can lead to ill health in adult life and further social disadvantage. (iv) psychiatric genomics and the genetics of IQ may address important questions of therapeutics but could also be used to disadvantage specific social or ethnic groups. (v) complex diseases are influenced by many factors, including genetic polymorphisms of individually small effect. A focus on these polygenic influences distracts from environmental factors that are more open to effective interventions. (vi) population genomic screening aims to support couples making decisions about reproduction. However, this remains a highly contentious area. We need to maintain a careful balance of the competing social and ethical tensions as the technology continues to develop.

[Making better use of the clinical geneticist's expertise; treating physician could request a DNA test for most cancer patients]. / Expertise van klinisch geneticus beter benutten.

Eight university medical centres in the Netherlands have established clinical genetic services. Patients receive intensive, and therefore costly, genetic counselling before genetic testing takes place. In recent years the number of patients referred to clinical genetic services has risen dramatically, creating waiting-list backlogs. Knowing your carrier status in hereditary cancers, for instance for a BRCA1/2 mutation, can have consequences for surveillance, treatment, and prevention; however, 90% of patients with breast cancer do not have a mutation. We, therefore, argue that the pathway to genetic testing should be reconstructed in order to safeguard timely and adequate genetic testing for an increasing number of patients. The treating physician should be able to request a DNA test in carefully-selected patient-populations, and only refer patients for genetic counselling after a positive finding. Prerequisites for this 'mainstream pathway' are adequate training for medical specialists, good communication with genetics' departments, and guaranteed referral in uncertain or complex cases.

[Forensic assessments from the Netherlands Institute of Forensic Psychiatry and Psychology in retrospect; applications of genetics and neuroscience, in 2000 and 2009]. / Rapportages pro Justitia van het Nederlands Instituut voor Forensische Psychiatrie en Psychologie in retrospectief; toepassingen van genetische en neurowetenschappelijke inzichten, in 2000 en 2009.

BACKGROUND: Developments in neurosciences and genetics are relevant for forensic psychiatry. AIM: To find out whether and how genetic and neuroscientific applications are being used in forensic psychiatric assessments, and, if they are, to estimate to what extent new applications will fit in with these uses. METHOD: We analysed 60 forensic psychiatric assessments from the Netherlands Institute of Forensic Psychiatry and Psychology, Pieter Baan Center, and 30 non-clinical assessments from 2000 and 2009. RESULTS: We found that (behavioral) genetic, neurological and neuropsychological applications played only a modest role in forensic psychiatric assessment and they represent different phases of the implementation process. Neuropsychological assessment already occupied a position of some importance, but needed to be better integrated. Applications from neurology were still being developed. Clinical genetic assessment was being used occasionally in order to diagnose a genetic syndrome with behavioral consequences. CONCLUSION: If further validated information becomes available in the future, it should be possible to integrate new research methods more fully into current clinical practice.

'A morass of considerations': exploring attitudes towards ethnicity-based haemoglobinopathy-carrier screening in primary care.

BACKGROUND: The Netherlands does not have a national haemoglobinopathy (HbP)-carrier screening programme aimed at facilitating informed reproductive choice. HbP-carrier testing for those at risk is at best offered on the basis of anaemia. Registration of ethnicity has proved controversial and may complicate the introduction of a screening programme if based on ethnicity. However, other factors may also play a role. OBJECTIVE: To explore perceived barriers and attitudes among GPs and midwives regarding the registration of ethnicity and ethnicity-based HbP-carrier screening. METHODS: Six focus groups in Dutch primary care, with a total of 37 GPs (n = 9) and midwives (n = 28) were conducted, transcribed and content analysed using Atlas-ti. RESULTS: Both GPs and midwives struggled with correctly identifying ethnicities at risk for HbP. Ethical concerns regarding privacy seemed to originate from World War II experiences, when ethnic and religious registration facilitated deportation of Jewish citizens, coupled with the political climate at the time focus groups were held. Some respondents thought the ethnicity question might undermine the relationship with their clients. Software programmes prevented GPs from registering ethnicity of patients at risk. Financial implications for patients were also a concern. Despite this, respondents seemed positive about screening and were familiar with identifying ethnicity and used this for individual patient care. CONCLUSIONS: Although health professionals are generally positive about screening, ethical, financial and practical issues surrounding ethnicity-based HbP-carrier screening need to be clarified before introducing such a programme. Primary care professionals can be targeted through professional organizations but they need national policy support.