Genetic counselling for psychiatric disorders: accounts of psychiatric health professionals in the United Kingdom

Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity

'Yeah that made a big difference!': The importance of the relationship between health professionals and fathers who have a child with Down Syndrome

Evidence suggests that medical services do not reflect the increased involvement of fathers in childcare, a discrepancy that can often lead to feelings of exclusion and inequality. Fathers who have a child with Down syndrome may encounter many different health professionals during their child’s life, therefore it is important to consider this relationship, and investigate the factors that influence their experiences. This is particularly important because the limited research focusing on fathers suggest that those who have a child with Down syndrome can experience increased stress levels and lasting feelings of loss and grief. It is therefore important to address their relationships with health professionals, as these may be a significant resource to prevent these feelings. This study used interpretative phenomenological analysis (IPA) to explore the experiences of seven fathers who have a child with Down syndrome, focusing on their interactions with health professionals. The analysis showed that the major factors associated with negative experiences were feelings of exclusion, receiving overly negative information about the condition and a perceived lack of on-going support. Positive experiences were associated with being made to feel like an equal parent, being given direct/clear information and being congratulated on the birth of their child. These results provide an insight into what fathers expect in terms of their own and their child’s care and highlight that health professionals have an important and extensive role in influencing fathers’ experiences of Down syndrome

SSRMI Development and Validation

Background: Serious mental illnesses (SMIs) are profoundly stigmatized, such that even relatives of people with SMI are impacted. Aims: To develop/validate a scale to comprehensively measure self-stigma among first-degree relatives of individuals with SMI. Methods: We conducted group interviews focusing on self-stigma with first-degree relatives (n=20) of people with SMI, from which 74 representative quotations were reframed as Likert-type items. Cognitive interviews with relatives (n=11) identified 30 items for the Self-Stigma in Relatives of people with Mental Illness (SSRMI) scale. Relatives (n=195) completed the scale twice, a month apart, together with four external correlate scales. Results: The 30-item SSRMI was reliable, with scores stable over time. Its single factor structure allowed generation of a 10-item version. Construct validity of 30- and 10-item versions was supported by expected relationships with external correlates. Conclusions: Both versions of the SSRMI scale are valid and reliable instruments appropriate for use in clinical/research contexts.Medicine, Faculty ofNon UBCMedical Genetics, Department ofPsychiatry, Department ofReviewedFacult

Increasing seed oil content in oil-seed rape (Brassica napus L.) by over-expression of a yeast glycerol-3-phosphate dehydrogenase under the control of a seed-specific promoter.

Previous attempts to manipulate oil synthesis in plants have mainly concentrated on the genes involved in the biosynthesis and use of fatty acids, neglecting the possible role of glycerol-3-phosphate supply on the rate of triacylglycerol synthesis. In this study, a yeast gene coding for cytosolic glycerol-3-phosphate dehydrogenase (gpd1) was expressed in transgenic oil-seed rape under the control of the seed-specific napin promoter. It was found that a twofold increase in glycerol-3-phosphate dehydrogenase activity led to a three- to fourfold increase in the level of glycerol-3-phosphate in developing seeds, resulting in a 40% increase in the final lipid content of the seed, with the protein content remaining substantially unchanged. This was accompanied by a decrease in the glycolytic intermediate dihydroxyacetone phosphate, the direct precursor of glycerol-3-phosphate dehydrogenase. The levels of sucrose and various metabolites in the pathway from sucrose to fatty acids remained unaltered. The results show that glycerol-3-phosphate supply co-limits oil accumulation in developing seeds. This has important implications for strategies that aim to increase the overall level of oil in commercial oil-seed crops for use as a renewable alternative to petrol