Genetic Testing for Disease Susceptibility: Social, Ethical and Legal Issues for Family Physicians

As genetic testing for disease susceptibility is incorporated into clinical practice, family physicians will increasingly provide initial genetic counseling and referrals for testing. Genetic testing for disease susceptibility is associated with numerous social, ethical and legal concerns that should be addressed during the counseling process. Informed consent requires discussion of the limitations of the available genetic tests and interventions, implications of test results for the patient and family members, and limits of confidentiality, and discrimination risks. Other issues include regulatory concerns in commercial testing and the existing legal protections against genetic discrimination

Genetic Testing for Disease Susceptibility: Social, Ethical and Legal Issues for Family Physicians

As genetic testing for disease susceptibility is incorporated into clinical practice, family physicians will increasingly provide initial genetic counseling and referrals for testing. Genetic testing for disease susceptibility is associated with numerous social, ethical and legal concerns that should be addressed during the counseling process. Informed consent requires discussion of the limitations of the available genetic tests and interventions, implications of test results for the patient and family members, and limits of confidentiality, and discrimination risks. Other issues include regulatory concerns in commercial testing and the existing legal protections against genetic discrimination

Genetic Testing for Disease Susceptibility: Social, Ethical and Legal Issues for Family Physicians

As genetic testing for disease susceptibility is incorporated into clinical practice, family physicians will increasingly provide initial genetic counseling and referrals for testing. Genetic testing for disease susceptibility is associated with numerous social, ethical and legal concerns that should be addressed during the counseling process. Informed consent requires discussion of the limitations of the available genetic tests and interventions, implications of test results for the patient and family members, and limits of confidentiality, and discrimination risks. Other issues include regulatory concerns in commercial testing and the existing legal protections against genetic discrimination

Clinical and Cytogenetic Findings in Seven Cases of Inverted Duplication of 8p with Evidence of a Telomeric Deletion using Fluorescence in Situ Hybridization

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qterp23.1::p23.1p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion

The genetic basis of pachyonychia congenita

In 1994, the molecular basis of pachyonychia congenita (PC) was elucidated. Four keratin genes are associated with the major subtypes of PC: K6a or K16 defects cause PC-1; and mutations in K6b or K17 cause PC-2. Mutations in keratins, the epithelial-specific intermediate filament proteins, result in aberrant cytoskeletal networks which present clinically as a variety of epithelial fragility phenotypes. To date, mutations in 20 keratin genes are associated with human disorders. Here, we review the genetic basis of PC and report 30 new PC mutations. Of these, 25 mutations were found in PC-1 families and five mutations were identified in PC-2 kindreds. All mutations identified were heterozygous amino acid substitutions or small in-frame deletion mutations with the exception of an unusual mutation in a sporadic case of PC-1. The latter carried a 117 bp duplication resulting in a 39 amino acid insertion in the 2B domain of K6a. Also of note was mutation L388P in K17, which is the first genetic defect identified in the helix termination motif of this protein. Understanding the genetic basis of these disorders allows better counseling for patients and paves the way for therapy development