POPH20001 Lecture Notes - Lecture 11: Newborn Screening, Risk Perception, Palliative Care

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E. g maternal serum screening, population screening, newborn screening. E. g amniocentesis and karyotyping of fetal cells during pregnancy. E. g hereditary breast and ovarian cancer, huntington disease, haemochromatosis, inherited cardiac conditions. Psychosocial aspects of genetic testing: individual perceptions and understanding of genetic information highly variable, motivations to have testing are complex, individuals and family members respond differently to testing, may need different levels of support. Communicating about genetics: de(cid:272)isio(cid:374) (cid:373)aki(cid:374)g choices made need to be accurately informed, genetic information is complex, frequently uncertain, communication often takes place at times of stress. Factors impacting on decision-making: cognitive ability, individual and lay perceptions, prior experiences, a(cid:374)(cid:454)iet(cid:455) a(cid:374)d (cid:449)ell (cid:271)ei(cid:374)g, level of understanding of information. Range of health professionals: clinical geneticists, genetic counsellors, midwifes, nurses, gps, obstetricians and other medical specialists e. g oncologists, neurologists. Genetic counselling (cid:862)the pro(cid:272)ess of helpi(cid:374)g people u(cid:374)dersta(cid:374)d a(cid:374)d adapt to the (cid:373)edi(cid:272)al, psychological and familial i(cid:373)pli(cid:272)atio(cid:374)s of ge(cid:374)eti(cid:272) (cid:272)o(cid:374)tri(cid:271)utio(cid:374)s to disease(cid:863)1.

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