The impact of genetics and genomics on public health

Brand, Angela; Brand, Helmut; Bäumen, Tobias Schulte in den

doi:10.1038/sj.ejhg.5201942

Cited by 90 publications

(83 citation statements)

References 39 publications

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“…Over recent years there has been increasing emphasis on integrating genetics into all aspects of healthcare (Austin and Honer, 2007;Brand et al, 2008;Hudson, 2011). However, questions remain about how to integrate genomic medicine into clinical practice, such that patients reap the greatest possible benefits from increased understanding about the role of genetics in the conditions they live with or for which they are at risk.…”

Section: Introductionmentioning

confidence: 99%

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice

Leach

Morris

White

et al. 2016

Journal of Genetic Counseling

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Psychiatric genetic counseling (PGC) is an emerging specialty discipline within the genetic counseling profession. A specialist PGC service was founded in 2012 in Vancouver, Canada, and though patient benefits have been demonstrated, many physicians do not regularly refer patients to the service despite awareness of its availability. We conducted a qualitative study involving semistructured telephone interviews with Vancouver-based physicians who were aware of the PGC service to explore this phenomenon. Interviews were audio-recorded, transcribed verbatim, coded, and analysed for emergent themes. Consistent with a grounded theory approach, constant comparison was employed throughout data collection and analysis. Analyses of interviews conducted with 12 physicians revealed that referral practices were informed by perceptions about the purpose of PGC and interpretation of patient cues. Physicians perceived PGC as an information-focused intervention, and considered referral when patients explicitly expressed desire for information about recurrence risk or etiology that they feel unable to adequately address themselves. Even when physicians identified psychotherapeutic benefits of PGC, patient needs of this nature were not perceived as cues prompting referral to PGC. These data suggest that further work is necessary to position PGC in physicians' minds as a service that could potentially benefit most individuals with psychiatric disorders and their families, and that encompasses more than information provision. It is important to increase physicians' awareness of the complementary role that genetic counselors can play to that of the physician in providing psychotherapeutically oriented counselling about illness etiology.

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Section: Introductionmentioning

confidence: 99%

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice

Leach

Morris

White

et al. 2016

Journal of Genetic Counseling

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“…4 Prediction of phenotypes from genetic data is considered to be important in both medical and forensic examinations. In particular, it can improve medical care by more accurate prognosis and prevention 5,6 and speed up forensic investigations by providing information concerning externally visible traits in criminal non-suspect cases or cases concerning identification of human remains. 7,8 Variation in pigmentation phenotype is particularly high in humans, especially in populations of European descent, and thus prediction of this phenotype would seem to provide information of particular importance for forensic examinations.…”

Section: Introductionmentioning

confidence: 99%

Gene–gene interactions contribute to eye colour variation in humans

et al. 2011

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Prediction of phenotypes from genetic data is considered to be the first practical application of data gained from association studies, with potential importance for medicine and the forensic sciences. Multiple genes and polymorphisms have been found to be associated with variation in human pigmentation. Their analysis enables prediction of blue and brown eye colour with a reasonably high accuracy. More accurate prediction, especially in the case of intermediate eye colours, may require better understanding of gene-gene interactions affecting this polygenic trait. Using multifactor dimensionality reduction and logistic regression methods, a study of gene-gene interactions was conducted based on variation in 11 known pigmentation genes examined in a cohort of 718 individuals of European descent. The study revealed significant interactions of a redundant character between the HERC2 and OCA2 genes affecting determination of hazel eye colour and between HERC2 and SLC24A4 affecting determination of blue eye colour. Our research indicates interactive effects of a synergistic character between HERC2 and OCA2, and also provides evidence for a novel strong synergistic interaction between HERC2 and TYRP1, both affecting determination of green eye colour.

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“…Some public health advocates contend that interventions based on environmental changes will be more effective than those focused on individual behavior change. By contrast, those supportive of a role for public health genomics argue that increasing knowledge of genomics and molecular pathology could unlock effective diagnostic techniques and treatments, as well as better target public health interventions [1][2][3][4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

Marzuillo

Vito

D’Addario

et al. 2013

European Journal of Public Health

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Background: Public health genomics is an emerging multidisciplinary approach, which aims to integrate genome-based knowledge in a responsible and effective way into public health. Despite several surveys performed to evaluate knowledge, attitudes and professional behaviors of physicians towards predictive genetic testing, similar surveys have not been carried out for public health practitioners. This study is the first to assess knowledge, attitudes and training needs of public health professionals in the field of predictive genetic testing for chronic diseases. Methods: A self-administered questionnaire was used to carry out a cross-sectional survey of a random sample of Italian public health professionals. Results: A response rate of 67.4% (797 questionnaires) was achieved. Italian public health professionals have the necessary attitudinal background to contribute to the proper use of predictive genetic testing for chronic diseases, but they need additional training to increase their methodological knowledge. Knowledge significantly increases with exposure to predictive genetic testing during postgraduate training (odds ratio (OR) = 1.74, 95% confidence interval (CI) = 1.05-2.88), time dedicated to continuing medical education (OR = 1.53, 95% CI = 1.14-2.04) and level of English language knowledge (OR = 1.36, 95% CI = 1.07-1.72). Adequate knowledge is the strongest predictor of positive attitudes from a public health perspective (OR = 3.98, 95% CI = 2.44-6.50). Physicians show a lower level of knowledge and more public health attitudes than other public health professionals do. About 80% of public health professionals considered their knowledge inadequate and 86.0% believed that it should be improved through specific postgraduate training courses. Conclusions: Specific and targeted training initiatives are needed to develop a skilled public health workforce competent in identifying genomic technology that is ready for use in population health and in modeling public health genomic programs and primary care services that need to be developed, implemented and evaluated.

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The impact of genetics and genomics on public health

Cited by 90 publications

References 39 publications

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice

Gene–gene interactions contribute to eye colour variation in humans

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

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