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List of contributors xv
Foreword xxi
Preface xxiii
Section I The Practice of Adult Genetics 1
1. Introduction to the practice of adult genetics 3
SHWETA U. DHAR
Overview of the field of adult genetics 3
Why is it necessary to learn more about this? 3
How are we teaching our medical students? 5
How are we training our genetics residents? 5
Who will impart genetic care to adult patients? 5
Why do we need a book like this? 6
References 6
2. Basic concepts of genetics and genomics 9
JENNIFER E. POSEY
Introduction 9
Functional elements of the human genome 9
Human genomic variation 12
Modes of inheritance 14
Relevance to clinical care 18
References 19
3. Genetic evaluation of an adult 21
AERON M. SMALL, MONICA GIOVANNI AND MICHAEL F. MURRAY
Introduction 21
Approach to the patient 21
Understanding the family context 24
How to apply diagnostic DNA technologies 26
Understanding the genetic and genomic contribution to disease 27
Follow-up and management 28
References 29
4. Genetic counseling for adults 31
TANYA N. EBLE, WENDY R. UHLMANN AND LAUREN E. HIPP
Introduction 31
Finding healthcare providers with genetics expertise 31
Resources for patients and clinicians 32
Principles of genetic counseling in the evaluation of adults 32
Unique considerations for genetics evaluation and testing in
adults 37
Case management for adults 39
References 40
5. Genetic testing in adults 43
SANDESH C.S. NAGAMANI AND JILL A. ROSENFELD
Introduction 43
Basic principles and practical approach to genetic testing in
adults 44
Cytogenetic testing 44
Sequencing tests 48
Other tests 50
Variant interpretation 51
Genome sequencing 53
Direct-to-consumer testing 54
Clinical vignettes 54
References 56
6. Transitioning to adult care 59
JOHN CHRISTOPHER BERENS, MARIA BLAZO AND CYNTHIA PEACOCK
Introduction 59
Psychosocial considerations 60
Education and employment 62
Health insurance 64
Medical decision-making and guardianship 65
Transition planning 66
Conclusion 68
References 68
7. Preconception and prenatal care 71
SANDRA DARILEK, SARAH HUGUENARD AND IGNATIA B. VAN DEN VEYVER
Introduction 71
Reproductive Carrier Screening 71
Maternal screening for fetal aneuploidy 73
Prenatal diagnostic testing 75
Preimplantation genetic testing 76
Parental genetic disease and reproduction 78
References 80
Section II Genetic disorders in adults 83
8. Cancer syndromes 85
SHWETA U. DHAR AND HUMA RANA
Introduction 85
Evaluation for a hereditary cancer syndrome 86
BAP1 tumor predisposition syndrome 92
Birt Hogg Dube 93
DICER1-related pleuropulmonary blastoma familial tumor
and dysplasia syndrome 94
Familial atypical multiple mole melanoma syndrome 95
Hereditary breast and ovarian cancer syndrome 96
Hereditary leiomyomatosis and renal cell carcinoma 100
Hereditary paraganglioma and pheochromocytoma 101
LiFraumeni syndrome 102
Prostate cancer syndrome 104
PTEN hamartoma tumor syndrome includes Cowden syndrome,
BannayanRileyRuvalcaba syndrome 105
References 108
9. Cardiac disorders 109
JEFFREY ADDISON, LUISA MESTRONI AND MATTHEW R.G. TAYLOR
Introduction 109
Cardiomyopathies 109
Inherited arrhythmogenic disorders 116
Tranthyretin amyloidosis 122
References 124
10. Hereditary connective tissue disorders 127
DAVID R. MURDOCK, HARRY C. DIETZ III AND GRETCHEN MACCARRICK
Introduction 127
Conditions with a primary vascular phenotype or aortopathy 128
Conditions with musculoskeletal and skin manifestations 137
Other conditions with phenotypic overlap 143
References 144
11. Disorders that impact reproduction 147
J. SCOTT GABRIELSEN AND DOLORES J. LAMB
Introduction 147
Disorders that impact male fertility 148
Disorders that impact female fertility 151
Disorders that impact both male and female fertility 153
Disorders of sex development 156
References 161
12. Endocrine disorders 163
DINA WINOGRAD, AVNI MODY, ASHOK BALASUBRAMANYAM AND
SUSAN L. SAMSON
Introduction 163
Monogenic causes of DM 163
Genetic syndromes affecting multiple endocrine glands 168
Genetic disorders of calcium metabolism 174
Genetic disorders caused by Gs-alpha subunit 176
Genetic disorders affecting the adrenal glands 179
References 182
13. Gastrointestinal disorders 185
JENNIFER WEISS, ANNA ZAKAS AND JESSICA HAUSE
Introduction 185
Diseases of the Colon 185
Diseases of the Stomach 195
Diseases of the Pancreas 199
Diseases of the Liver 205
References 210
14. Hematological disorders 213
SARVARI YELLAPRAGADA AND KATIE LEE BERGSTROM
Introduction 213
Bleeding disorders 213
Bone marrow failure disorders 218
Thrombophilia 219
Red cell defects 221
Hematological malignancies 227
References 229
15. Immunologic disorders 231
WOJCIECH WISZNIEWSKI
Introduction 231
Disorders with antibody deficiency 233
Disorders with T-cell deficiency 239
Complement deficiencies 242
Autoinflamatory disorders 244
References 246
16. Intellectual and developmental disabilities 249
JAIME VENGOECHEA AND AIXA GONZALEZ GARCIA
Introduction 249
Syndromic intellectual disability 252
Nonsyndromic intellectual disability 257
Conclusion 257
References 258
17. Metabolic disorders 261
LINDSAY BURRAGE AND RONIT MAROM
Introduction 261
Metabolic stroke 267
Neuropsychiatric symptoms 270
Rhabdomyolysis 274
Peripheral neuropathy 276
References 280
18. Mitochondrial disorders 283
JAYA GANESH AND FERNANDO SCAGLIA
Introduction 283
Evaluation of mitochondrial disorders 285
Genetic testing 294
Genetic counseling 299
References 300
19. Neurologic disorders 305
FUKI M. HISAMA AND THOMAS D. BIRD
Introduction 305
Neurogenetic disorders 306
Movement disorders 306
Motor neuron and neuromuscular diseases 311
Dementias 316
Paroxysmal disorders 320
References 323
20. Pulmonary disorders 325
SHWETA U. DHAR AND SANDESH C.S. NAGAMANI
Introduction 325
Obstructive lung disease 325
Restrictive lung disease 330
Spontaneous pneumothorax 332
Vascular disorders 333
Lung cancer 336
References 337
21. Psychiatric disorders 339
MEGAN E. TUCKER
Introduction 339
Mental health conditions 340
Genetic conditions associated with an increased risk for
mental illness 342
References 351
22. Renal disorders 353
MIR REZA BEKHEIRNIA AND NASIM BEKHEIRNIA
Introduction 353
Cystic renal diseases 353
Inherited glomerulopathies 356
Common genetic disorders with renal involvement 361
Hereditary renal cell carcinoma 363
Genomic medicine in adult nephrology 366
References 366
23. Skeletal disorders 369
SANDESH C.S. NAGAMANI AND BRENDAN LEE
Introduction 369
GSDs that present with altered BMD 370
GSDs with abnormal bone mineralization 375
FGFR3-related chondrodysplasia 377
References 379
24. Skin disorders 381
KRYSTAL M. JONES AND MOISE L. LEVY
Introduction 381
Pigmentation disorders 381
Photosensitivity disorders 386
The porphyrias 389
Neurocutaneous disorders 392
Disorders of the epidermis 396
Vascular anomalies 401
References 403
Section III Access to Genetic Services 405
25. Billing and reimbursement 407
DAVID FLANNERY AND ADNAN ALSADAH
Introduction 407
Referral to a clinical genetic service 407
CPT coding for clinical services 408
Documentation 409
New payment models 411
Billing for clinical services 411
Billing for genetic laboratory services 413
References 416
26. Telegenetics and other care models 417
EDWARD D. ESPLIN, RUTH K. ABRAMSON AND DAVID FLANNERY
Introduction 417
Use of Telemedicine/Telehealth in adult genetics 418
Equipment and technology for telegenetic services 421
Software applications (commonly known as apps) 421
Use of telegenetic services to support rural health providers 422
E-consults and videoconsults 422
Commercial use of telegenetics 423
Standards and regulatory policy applicable to TM for genetic
services 424
Billing and reimbursement for TM services 426
Conclusions 427
References 428
27. Ethical, Legal, and Social Implications 431
CHRISTI J. GUERRINI, AMY L. MCGUIRE AND GABRIEL LAZARO-MUNOZ
Introduction 431
Decision-making and informed consent 432
Disclosure of results 435
Privacy and discrimination 438
References 441
Section IV Future Directions 443
28. Precision medicine in the genomic era 445
TREVOR D. HADLEY AND SANDESH C.S. NAGAMANI
Introduction 445
Precision medicine initiative 446
Applicability of precision medicine in the clinic 446
Direct-to-consumer genetic testing and precision medicine 449
Challenges and future directions 450
References 451
29. Pharmacogenomics 453
LILEI ZHANG AND KEVIN E. GLINTON
Introduction 453
Clinical applications of pharmacogenomics 453
Clinical resources and adaptation of pharmacogenomics 458
Challenges and future directions 459
References 461
30. Gene therapy and gene editing 463
NICOLA BRUNETTI-PIERRI
Introduction 463
Gene therapy strategies and vectors 463
Ex vivo gene therapy 464
In vivo gene therapy 466
Genome editing 471
Current status, future challenges, and conclusions 473
References 474
Index 479

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