Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services. Description of the limb girdle muscular dystrophies [LGMD2B]

Eur J Hum Genet 17(6):711–719 (and Recommendations on pp 720–1), Article  Within the UK, many of those from communities in which consanguineous marriage is customary and often preferred will have been treated badly by health professionals, and perhaps others, when this topic has been raised in the past.

Counter arguments to this last claim are numerous and persuasive, for the present, as the interpretation of a genome sequence is still far from straightforward and the introduction of yet more genomic uncertainty into the portfolio of information about the child is unlikely to help the prospects of her or him being adopted. It is still good practice to discuss the emotions that may be faced in those different circumstances but the intent in raising such issues is not to challenge a patient’s decision whether to be tested but to help improve their preparation for facing the test results. Pediatrics136(4): e974–82, McDougall R (2007) Parental virtue: a new way of thinking about the morality of reproductive actions. Hereditary counselling is essentially the most central angle that can help patients in different ways it not just covers the zones of fitting and right determination additionally administration and steady treatment.

The question of whether to require specific and distinct consent for disorders like DMD or SMA (Swoboda 2010), for which treatments are still experimental and not yet routinely available, is important (Ross 2006; Ross and Clarke 2017).  Hex-A deficiency. Cambridge University Press, Cambridge, Gaff CL, Bylund CL (2010) Family communication about genetics. When a patient appears unable or reluctant to engage with the counselling around genetic testing, the question may arise as to their ability to give consent to testing. Carel 2016) rather than congenital disorders manifest from birth: phenomenological studies that address these conditions would be most valuable. Perhaps the first question to consider, before thinking about genetic testing, is how children come to find out about a genetic condition in the family. Professionals will be concerned that factors such as denial, an adolescent sense of invulnerability linked to risk taking, an impulse to rebellion and a desire to separate from their family may all lead to the hasty making of decisions, if the young person has a limited ability to imagine the full range of possible test outcomes and how they may play out in their lives. We would ask the patient how they feel they would cope with an adverse result, although of course no-one can be sure about this, and whether there is anything they or we could do in advance to help prepare for a period of real distress. From the perspective of the community practising consanguineous marriage, it will usually be seen as entirely natural and a force for stability in the family, which enhances the status of women and which is not usually associated with genetic disorders in the community’s children. In discussing with parents in clinic ‘how to tell the children’, it would be common to encourage open disclosure but in a gentle and age-appropriate manner, in contrast to the idea of keeping the problem secret and then planning a disclosure session as a single, discrete event. Important and helpful studies of this type are presented by Forrest et al. The professional will want to put on a convincing performance as a competent, caring and ethical professional but, at the same time, s/he will want to ‘get the box ticked’ and move on to the next task. Nat Rev Genet 16:553–559, Konrad M (2005) Narrating the new predictive genetics: ethics, ethnography and science. EJMG 58:659–667, Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. What must be considered is when it would be appropriate to perform tests of no relevance to the child before s/he reaches maturity. Am J Hum Genet 51(4):936–937, Lucassen A, Parker M (2001) Revealing false paternity: some ethical considerations. PubMed  Ethical dilemmas associated with the births and deaths of infants with fatal abnormalities from a small sample of Pakistani Muslim couples in Britain. This may be a question of personality, of coping style, of psychological defence, of cognitive limitation, or of a failure of the professional and patient jointly to establish a connection—a bond of trust. It may, for example, be appropriate to accelerate the predictive testing process in a pregnancy. Eur J Hum Genet 22:3–5, Knoppers BM, Zawati MH, Sénécal K (2015) Return of genetic testing results in the era of whole-genome sequencing. In addition to gender, ‘culture’ may be seen as an important factor in family communication within some communities. Training for the genetic counsellor will aim to develop insight about the influence that is exerted and how to make this influence appropriate and helpful, to enhance the decision making process of the patient (Kessler 1992; Wolff and Jung 1995; Clarke 1997). Rev Bras Hematol Hemoter.

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