[HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?]

INTRODUCTION: Genetic counselors are often compared with other medical professionals in terms of productivity, based on the number of patients seen and the time required for each patient. Prenatal genetic counseling before amniocentesis in uneventful pregnancies is considered to be a "simple" counseling, with potentially less time required for each patient. Thus, in some medical centers the duration of such consultations is limited to provide only the basic explanation without detailed collection of personal and family history, while in others the explanation is given to several patients together. AIMS: To assess the need for extended genetic counseling during supposedly "simple" genetic consultations before amniocentesis. METHODS: Data was collected from January 2018 until August 2020 of all patients undergoing genetic counseling before amniocentesis due to advanced maternal age, abnormal biochemical screening, or without medical indication. The consultations were given by four genetic counselors and two medical geneticists. The need for extended genetic counseling was evaluated based on pedigree and the discussion summaries and recommendations noted in genetic counseling summaries. RESULTS: Of the 1085 relevant counseling appointments, 657 (60.5%) required additional explanation beyond the basic consultation. The reasons for extended counseling included medical disorders of the woman or spouse (21.2%), carrier state for autosomal recessive diseases (18.6%), diagnosed or suspected genetic conditions of a child or previous pregnancy (9.6%), or medical disorders in the extended family (79.1%). In 31.0% of patients, recommended carrier screening tests were recommended or added. In 32.3% of cases, only one extra subject was counseled, in 16.3% two subjects, and in 5%, three subjects or more. The additional explanations were estimated as short (up to 5 minutes) in 36.9% of the cases, intermediate (5 to 15 minutes) in 59.9%, and long (over 15 minutes) in 2.6% of cases. The consultation's duration was not affected from it being a first meeting or a recurrent consultation. CONCLUSIONS: The need for further explanation was demonstrated in over 60% of genetic consultations, performed prior to amniocentesis due to supposedly "simple" indication. DISCUSSION: This fact reflects the importance of formal genetic counseling even in cases of seemingly simple indications, with an emphasis on detailed personal and family history, dedicating sufficient time to the counseling itself. Alternatively, it is important to exercise extra caution when conducting a short explanatory conversation prior to amniocentesis, including detailed questionnaires and the patient's signature on the possible limitations of such explanations.

Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.

PURPOSE: To investigate the roles of CYP1B1 and MYOC mutations and characterize the phenotype of primary congenital glaucoma in Israeli patients from 3 different ethnic backgrounds. DESIGN: Interventional case series. METHODS: This institutional study included 34 Israeli primary congenital glaucoma patients (26 families) comprising 9 Jews (9 families), 17 non-Bedouin Muslim Arabs (10 families), and 8 Druze (7 families). The patients and their relatives (n = 99) were screened for CYP1B1 and MYOC mutations. RESULTS: Mutations in the CYP1B1 gene were detected in 12 of 26 families (46%) with primary congenital glaucoma (5 Muslim Arab, 5 Druze, and 2 Jewish). The Jewish families had compound heterozygous mutations and digenic mutations (ie, an Ashkenazi family had mutations in the CYP1B1 gene [Arg368His, R48G, A119S, and L432V haplotypes] and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene [1908delA, Sephardic] with a second missense mutation on the MYOC gene [R76K, Ashkenazi]). The Muslim Arabs and Druze tended to have a more severe phenotype than that of the Jews. CONCLUSION: The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity. The rarity of mutations in the CYP1B1 gene among Ashkenazi primary congenital glaucoma patients indicates that a different locus may be involved in the phenotype.