Genomics in the Clinic A Practical Guide to Genetic Testing, Evaluation, and Counseling
Coordonnateurs : Kline Antonie D., Jabs Ethylin Wang
2. Basic Principles of Genetics and Genomics
3. Genetic Counseling and Referrals
4. Prenatal Genetics and Referrals
5. Clinical Genetics and Referrals
6. Genetic and Genomic Testing
7. Genetic and Genomic Results and Management
8. Cancer Genetics Referrals and Management
9. Direct-to-Consumer Testing
10. Ethical and Psychosocial Implications (ELSI)
11. Case Scenarios
non-geneticist physicians, in particular pediatricians, internists, general practitioners, family medicine practitioners, obstetricians and gynecologists, oncologists, and pharmacists, medical students and residents in various specialties; healthcare administrators and affiliates; clinical and translational scientists; genetic counselors; pharmacists and pharmacologists
Dr. Kline is the medical director of the Cornelia de Lange Syndrome Foundation and a member of the professional advisory board of the 5p- Society. Her areas of expertise include evaluation of multiple birth defects and/or developmental issues, as well as correlation and interpretation of cytogenetic changes in a clinical setting.
Dr. Ethylin Wang Jabs is a clinical geneticist and serves as an attending in medical genetics in the General Genetics Clinic and the Cleft and Craniofacial Clinic at the Mount Sinai Medical Center, New York, NY. Dr. Jabs is also Vice Chair and Professor of the Department of Genetics and Genomic Sciences, Professor of Pediatrics, and Professor of Developmental and Regenerative Biology at Mount Sinai. She was the Chief of the Division of Medical Genetics and Genomics from 2007-2012 and served as Director of the Medical Genetics Residency and Clinical Laboratory Fellowship Training Programs from 2007-2011. Prior to November 1, 2007, her appointment was at Johns Hopkins University School of Medicine. She was the Dr. Frank V. Sutland Professor of Pediatric Genetics, Director of the Center for Craniofacial Development and Disorders, and Director of the International Collaborative Genetics Research Training Program.
- Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees
- Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice
- Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime
Date de parution : 11-2023
Ouvrage de 620 p.
19x23.4 cm
Mots-clés :
Adults; Advanced maternal age; Alcoholism; Amniocentesis; Amyoplasia; Aneuploidy; Anomaly; Anxiety; Arthrogryposis; Autism; Autosome; Benign sequence variant; Bioethics; Bipolar disorder; Cancer predisposition gene; Carrier screening; Children; Chorionic villous sampling (CVS); Chorionic villus sampling; Choroid plexus cyst; Chromosome; Chromosome microarray analysis; Clinical genetics; Clinical genomics; Clubfeet; Clubfoot; Comparative genomic hybridization array (CGH array or aCGH) testing; Congenital; Consanguinity; Contractures; Copy number variant; Cystic fibrosis; Cytogenetics; Depression; Developmental; Diabetes; Diabetic embryopathy; Direct-to-consumer; Direct-to-consumer testing; DNA; DNA fingerprinting; Dominant; Dominant; recessive; and X-linked inheritance; Down syndrome; DTC; Dysmorphic; Embryologic; Enhanced clinical surveillance; Epigenome; Epigenomics; Ethical implications; Ethics; Ethnicity; Exome sequencing; Exon