| Background:China has a large number of people and a rapid growth in its population. According to the statistic data from State Family Planning Commission (SPFPC), there is a baby with birth defects born every30seconds in China, on average. At the moment, it is a great problem for China and other parts of the world to figure out a timely and effective way of establishing the causes of birth defects and taking effective actions to decrease or prevent the birth defects. Causes of birth defects may contain environmental factors, pregnancy factors, and genetic factors and so on, among which the genetic factors may account for25%of total causes of birth defects. Now, one of the most effective ways to decrease or prevent birth defects is to prohibit consanguineous marriages, make genetic diagnosis, and provide genetic counseling and eugenic advice for inherited diseases.With a right genetic diagnosis, the genetic counseling will act with a well-defined objective in mind. Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:1. Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.2. Education about inheritance, testing, management, prevention, resources and research.3. Counseling to promote informed choices and adaptation to the risk or condition.So far, no formal credential programs or board to certificate genetic counselors or clinical geneticist in China. Compared with the developed countries in the Europe and in the America, the current status of clinical genetic service in China has quite a long distance in the level of genetic diagnosis and the quality of genetic counseling of inherited diseases.Therefore, the question how to improve the quality of clinical diagnosis, counseling and eugenic advice for inherited disease is urgently to be solved in China, in order to prevent genetic disease or birth defects.Purposes:This was a pilot study of a standardized procedure for clinical genetic counseling in our hospital, in order to further improve the diagnostic skills of inherited disease and the quality of genetic counseling in our hospital.Methods:On the present platform of clinical genetic service in our hospital, we were to preliminarily explore a standardized procedure for genetic counseling, using four different cases of genetic counseling and genetic diagnosis as examples, and tried to draft a standardized procedure of the clinical practices for genetic counseling and genetic diagnosis (recommendations).Subjects:Four different cases of inherited diseases.Case1:A28-year old female patient with a main complaint of generalized muscle weakness for28years came to our hospital for genetic counseling and family planning consultations.Case2:A7-year old boy was referred as growth retardation and intellectual disability for7years. His parents planned to have another baby, asking for genetic counseling. Case3:A29-year old male patient with a main complaint of short stature for20years was married and planning to have children, inquiring for genetic risks.Case4:A13-year old girl came with a main complaint of night-blindness for around10years. Her parents wanted another child, asking for genetic counseling.Results:Case1:The female patient got a definite genetic diagnosis of centronuclear myopathy with a heterozygous missense mutation c.1105C>T; pR369W (CGG>TGG) in the exon8of DNM2gene. We explained to the patient and her family members that risks of restricted ventilation function disturbance, respiratory failure, pulmonary infection and even pulmonary heart failure may occur in the patient during peripartum, and risks of chronic intrauterine hypoxia and introuterine growth retardation for the fetus may occur during the period. And we actively make close contact and interact with multiple disciplines in other comprehensive hospitals such as cardiovascular department, respiratory department and so on to facilitate the collaboration and coordination of a multidisciplinary team, and provided some resources for help and the information of current researches about it, in order to decrease or prevent the above possible risks.Case2:The symptom of grow retardation and intellectual disability in the boy was considered as one of the severe complications of congenital nephrogenic diabetes insipidus, caused by a hemizygous missense mutation c.506T>C; pL169P (CTT>CCT) in the exon2of AVPR2gene. We explained to the boy's parents the X-liked recessive inheritance of the disorder; the recurrent risk for the next pregnancy of the boy's parents, current treatments available and optional preventions and so on.Case3:The male patient was diagnosed to have spondyloepiphyseal dysplasia tarda with a hemizygous deletion of1,327bp containing exon6of SEDL gene. We explained to the patient and his family members the X-liked recessive inheritance of the disorder; recurrent risk, current treatments available and optional preventions and so on.Case4:The girl got a definite genetic diagnosis of congenital stationary night-blindness (Oguchi's disease) caused by compound heterozygosity of a nonsense mutation c.577C>T; R193X and a heterozygous deletion of3,224bp encompassing exon2in the SAG gene. We explained to the patient and her family members the autosomal recessive inheritance of the disorder; recurrent risk of the girl's parents, current treatments available and optional preventions and so on.2. Based on the successful experience from the clinical practice of genetic diagnosis and genetic counseling for these four new cases, this study had tried to draft a standardized procedure of clinical practice aimed at improving the diagnostic skills for inherited diseases (recommendations) and the quality of genetic counseling (recommendations), in respective.Conclusions:1. Through the clinical practice of genetic diagnosis and genetic counseling for four different inherited diseases, I gained an ability of how to make genetic diagnosis and provide genetic counseling for new inherited diseases. A platform of genetic diagnosis and genetic counseling for these four inherited diseases were established in our hospital, which would lay a foundation for the development of the clinical genetic service of genetic diagnosis and genetic counseling for these four diseases.2. Three novel mutations were identified. Among them, the deletion mutation in SAG gene was the first report in the world and it was first case of congenital stationary night-blindness (Oguchi's disease) in China.3. We emphasized the importance of comprehensive evaluations and explanations for the possible interactions between the disease and pregnancy to assess all possible risks to the fetus and the pregnant mother during peripartum, available preventive approaches and effective measures and so on, in terms of family planning consultations for female patients. We also emphasized the importance of close cooperation and coordination with multiple departments including gynecology, cardiology, and respiration and so on.4. A standardized procedure of genetic diagnosis and genetic counseling in our hospital (recommendations) was drafted, which would improve the diagnostic skills and the quality of genetic counseling in our hospital. We hoped the drafts would throw out a minnow to catch a whale for the formal establishment of a standardized program of clinical genetic counseling in our hospital. |
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