Disease relevance of Genetic Counseling

• CONCLUSIONS: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling [1].
• X-linked inheritance has important consequences for genetic counseling of families with Fanconi anemia belonging to complementation group B. Its presence as a single active copy and essentiality for a functional Fanconi anemia-BRCA pathway make FANCB a potentially vulnerable component of the cellular machinery that maintains genomic integrity [2].
• Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling [3].
• In genetic counseling, the recommended risk estimate that any heterozygous woman with myotonic dystrophy (DM) will have a congenitally affected child is 3%-9% [4].
• In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation [5].

Psychiatry related information on Genetic Counseling

• RESULTS: Genetic counseling revealed a variety of findings characterized by emotional stress in MSH2 germline mutation carriers [6].
• 3. Since Lithium carbonate has been proven to be an effective prophylactic treatment in affective disorders, the question arises whether early detection of affective illness is possible and what are the implications for genetic counseling and primary prevention of affective illness [7].
• Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history [8].
• Because some families showing autosomal dominant microcephaly have normal intelligence, psychometric evaluation of microcephalic children and their microcephalic relatives is important for genetic counseling [9].
• MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome [10].

High impact information on Genetic Counseling

• Therefore, genetic linkage testing can be used for informed genetic counseling in MEN1 families, and to avoid unnecessary biochemical screening programs [11].
• Genetic counseling and testing for germline p16 mutations in two pancreatic cancer-prone families [12].
• Because of the onset of symptoms in patients with autosomal dominant polycystic kidney disease is generally delayed until adulthood, genetic counseling is imprecise [13].
• Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling [14].
• The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families [15].

Chemical compound and disease context of Genetic Counseling

• It is now possible to use gene diagnostics of this unique NIS mutation to identify patients with congenital hypothyroidism due to an iodide transport defect in this family and to determine the carrier state of potential parents for genetic counseling and arranging rapid and early diagnosis of their infants [16].
• Since 1985 a multidisciplinary team in the Sophia Children's University Hospital in Rotterdam provides diagnostic follow up and genetic counseling services for neurofibromatosis type 1 (NF1) patients and their families [17].
• The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy. I. Analysis of results from 29 studies [18].

Biological context of Genetic Counseling

• Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling [19].
• In an attempt to identify molecular defects of this genomic region that are responsible for PMD, these results meant that RFLP analysis could be used to improve genetic counseling for the numerous affected families in which a PLP exon mutation could not be demonstrated [20].
• These results provide the basis for a molecular-genetic screening approach that will supplement the clinical evaluation and genetic counseling of members of MEN1 families [21].
• This study demonstrates genetic heterogeneity in FSHD and has important implications for both genetic counseling and the elucidation of the etiology of FSHD [22].
• While final interpretation of these data awaits molecular cloning of the CF gene, the information on haplotype association in CF may be useful in genetic counseling and disease prognosis, in identifying the gene itself, and in defining the mutations [23].

Anatomical context of Genetic Counseling

• METHODS: Diagnostic aids utilized included microbial testing, histological examination, gingival crevicular fluid (GCF) analysis for the levels of C-telopeptide pyridinoline cross-links (ICTP), and genetic counseling [24].
• Therefore, accurate identification of a cell line containing Y chromosome is critical for genetic counseling and postnatal management [25].
• Their accurate diagnosis, which is essential for genetic counseling and eventual future therapies, is now possible by immunocytochemical analysis of the 50 DAG in the biopsied skeletal muscle [26].
• The significance of diagnosing activating TSHR mutations lies in therapeutic management and genetic counseling; thyroid ablation is advocated as first line treatment [27].

Associations of Genetic Counseling with chemical compounds

• Comparison of dystrophin studies with restriction fragment length polymorphism analysis and creatine kinase levels showed that neither immunocytochemical nor immunoblot techniques for dystrophin are sensitive enough to provide a basis for genetic counseling [28].
• The Colorado-Wyoming Regional Genetic Counseling Program has demonstrated the feasibility and utility of providing genetic counseling services over a very large area of the Rocky Mountain Region [29].
• Chlorpropamide-alcohol flushing is not useful for individual genetic counseling of diabetic patients [30].
• Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St [31].
• The genetic counseling of affected families is made more difficult by the inherent inaccuracy of carrier detection based on plasma Factor VIII levels [32].

Gene context of Genetic Counseling

• Since the current biochemical techniques for X-ALD carrier detection in affected families lack sufficient reliability, our procedure described for systematic mutation scanning is also capable of improving genetic counseling and prenatal diagnosis [33].
• Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap [34].
• Our data help define the distribution and spectrum of mutations associated with the TSC loci and will be useful for both understanding the function of these genes as well as genetic counseling in patients with the disease [35].
• This study demonstrates that FAMA allows rapid and reliable detection of mutations in the L1CAM gene and thus represents one of the most appropriate methods to provide diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1 [36].
• Identification of all WD mutations will undoubtedly increase our understanding of the normal function of ATP7B as well as lead to more accurate prognosis and genetic counseling [37].

Analytical, diagnostic and therapeutic context of Genetic Counseling

• Screening for molecular defects that cause delta-thalassemia or unstable delta-globin by PCR amplification and restriction enzyme digestion will lead to correct diagnosis of beta/delta-thalassemia compound heterozygotes and improved genetic counseling [38].
• Given the potential implication for genetic counseling, a 22q11.2 deletion should be considered in the differential diagnosis of adult patients with hypoparathyroidism of unknown origin and should be searched for by appropriate molecular cytogenetic technique [39].
• DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia [40].
• METHODS: A retrospective cohort study of participants in genetic counseling for BRCA1/2 testing was conducted at a clinical program in a large academic health system [41].
• EEG changes in positive gene-carriers for HD confirm an early functional impairment which should be taken into account in the genetic counseling and in the management of the early stages of the disease [42].

References