Handbook Of Clinical Adult Genetics And Genomics

Section I The Practice of Adult Genetics

1. Introduction to the practice of adult genetics

SHWETA U. DHAR

2. Basic concepts of genetics and genomics

JENNIFER E. POSEY

3. Genetic evaluation of an adult

AERON M. SMALL, MONICA GIOVANNI AND MICHAEL F. MURRAY

4. Genetic counseling for adults

TANYA N. EBLE, WENDY R. UHLMANN AND LAUREN E. HIPP

5. Genetic testing in adults

SANDESH C.S. NAGAMANI AND JILL A. ROSENFELD

6. Transitioning to adult care

JOHN CHRISTOPHER BERENS, MARIA BLAZO AND CYNTHIA PEACOCK

7. Preconception and prenatal care

SANDRA DARILEK, SARAH HUGUENARD AND IGNATIA B. VAN DEN VEYVER

Section II Genetic disorders in adults

8. Cancer syndromes

SHWETA U. DHAR AND HUMA RANA

9. Cardiac disorders

JEFFREY ADDISON, LUISA MESTRONI AND MATTHEW R.G. TAYLOR

10. Hereditary connective tissue disorders

DAVID R. MURDOCK, HARRY C. DIETZ III AND GRETCHEN MACCARRICK

11. Disorders that impact reproduction

J. SCOTT GABRIELSEN AND DOLORES J. LAMB

12. Endocrine disorders

DINA WINOGRAD, AVNI MODY, ASHOK BALASUBRAMANYAM AND

SUSAN L. SAMSON

13. Gastrointestinal disorders

JENNIFER WEISS, ANNA ZAKAS AND JESSICA HAUSE

14. Hematological disorders

SARVARI YELLAPRAGADA AND KATIE LEE BERGSTROM

15. Immunologic disorders

WOJCIECH WISZNIEWSKI

16. Intellectual and developmental disabilities

JAIME VENGOECHEA AND AIXA GONZALEZ GARCIA

17. Metabolic disorders

LINDSAY BURRAGE AND RONIT MAROM

18. Mitochondrial disorders

JAYA GANESH AND FERNANDO SCAGLIA

19. Neurologic disorders

FUKI M. HISAMA AND THOMAS D. BIRD

20. Pulmonary disorders

SHWETA U. DHAR AND SANDESH C.S. NAGAMANI

21. Psychiatric disorder

MEGAN E. TUCKER

22. Renal disorders

MIR REZA BEKHEIRNIA AND NASIM BEKHEIRNIA

23. Skeletal disorders

SANDESH C.S. NAGAMANI AND BRENDAN LEE

24. Skin disorders

KRYSTAL M. JONES AND MOISE L. LEVY

Section III Access to Genetic Services

25. Billing and reimbursement

DAVID FLANNERY AND ADNAN ALSADAH

26. Telegenetics and other care models

EDWARD D. ESPLIN, RUTH K. ABRAMSON AND DAVID FLANNERY

27. Ethical, Legal, and Social Implications

CHRISTI J. GUERRINI, AMY L. MCGUIRE AND GABRIEL LAZARO-MUNOZ

Section IV Future Directions

28. Precision medicine in the genomic era

TREVOR D. HADLEY AND SANDESH C.S. NAGAMANI

29. Pharmacogenomics

LILEI ZHANG AND KEVIN E. GLINTON

30. Gene therapy and gene editing

NICOLA BRUNETTI-PIERRI