看護職の立場から考える発症前遺伝子診断の現状と課題  [in Japanese] The present condition and problem of presymptomatic genetic testing  [in Japanese]

神経筋疾患では，遺伝子診断をおこなってはじめて診断を確定できる疾患もあり，遺伝子診断の意義は大きい．しかし，この診断結果が多くの血縁者にもたらす影響は甚大であり，発症前遺伝子診断や出生前遺伝子診断といった人生を左右する選択に波及する．<br>常染色体優性遺伝性疾患のひとつである家族性アミロイドポリニューロパチーで発症前遺伝子診断を受けた人5名に対しておこなった質的研究では，'遺伝'がその人の人生に，そして家族ダイナミクスにも大きな影響を与えていた．<br>遺伝性疾患患者・家族を支えるには，遺伝子診療部だけでなく，遺伝に関する一次・二次・三次相談というすべての医療機関が連携して継続した支援ができる体制作りが重要となる．

For neuromuscular disease the best diagnosis is by genetic testing. Genetic testing is very important, however, the influence which a positive result can have on a family is very considerable. It can affect the family's lifestyle a lot. For example presymptomatic and prenatal genetic testing may be necessary for the family's children when they become adults themselves.<br>We did qualitative research with five people who received presymptomatic genetic testing because of a family member with familial amyloidic polyneropathy. Heredity problems had a big influence on their life and on family dynamics.<br>In order to support hereditary disease patients and their families, it is important to make a system which all medical institutions can use to help them cooperate together and deal with the treatment of hereditary diseases.