Galjaard H
Afd. Klinische Genetica, Academisch Ziekenhuis Rotterdam-Dijkzigt.
Ned Tijdschr Geneeskd. 1997 Dec 6;141(49):2386-91.
The main feature of clinical genetics is the involvement of close relatives in the diagnostics of a hereditary disorder, and the possible consequences of the findings for future generations. Complex genetic counseling is required in cases with different, possibly hereditary disorders or congenital anomalies in the family or by a syndrome with variable risks of recurrence, depending on the exact nature of the disorder; also the difficult, often emotionally charged choices with which counselees are faced demands the expertise of a clinical genetic centre. Results of follow-up studies after genetic counseling show that experience with a handicap or disease in the own environment and the presence of healthy issue are the main determinants for the decision about reproduction of persons with an enhanced genetic risk who request counseling. Because of the great variety in perception of risks and of the severity of a disorder, and because of the marked clinical heterogeneity, rigid legislation should be avoided in the field of prenatal diagnosis. In the future, the training of the clinical geneticist has to be adapted to the rapid progress in human genetics. Increasingly, the clinical geneticist will function in collaboration with other disciplines such as oncology, obstetrics and gynaecology, paediatrics and neurology; in connection with family testing and counseling, there will also be more collaboration with primary health care.
临床遗传学的主要特点是在遗传性疾病的诊断中涉及近亲，以及诊断结果对后代可能产生的影响。对于家族中存在不同的、可能是遗传性疾病或先天性异常的情况，或者对于具有不同复发风险的综合征，需要进行复杂的遗传咨询，具体取决于疾病的确切性质；此外，咨询对象面临的艰难且往往充满情感压力的选择也需要临床遗传中心的专业知识。遗传咨询后的随访研究结果表明，自身环境中存在残障或疾病的经历以及健康子女的存在是那些有更高遗传风险且寻求咨询的人做出生育决定的主要因素。由于对风险的认知和疾病严重程度存在很大差异，以及临床异质性明显，产前诊断领域应避免严格的立法。未来，临床遗传学家的培训必须适应人类遗传学的快速发展。临床遗传学家将越来越多地与肿瘤学、妇产科、儿科学和神经学等其他学科合作；在家庭检测和咨询方面，也将与初级卫生保健有更多合作。
