Handbook of Clinical Adult Genetics and Genomics: A Practice-based Approach

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Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach
Copyright
Contents
	Section I The Practice of Adult Genetics1
	Section II Genetic disorders in adults83
	Section III Access to Genetic Services405
	Section IV Future Directions443
List of contributors
Foreword
Preface
Sec 1
1 Introduction to the practice of adult genetics
	Overview of the field of adult genetics
	Why is it necessary to learn more about this?
	How are we teaching our medical students?
	How are we training our genetics residents?
	Who will impart genetic care to adult patients?
	Why do we need a book like this?
	References
2 Basic concepts of genetics and genomics
	Introduction
	Functional elements of the human genome
		Molecular architecture of DNA
		Nuclear and mitochondrial genomes
		Gene structure
	Human genomic variation
		Types of genetic and genomic variants
			Single-nucleotide variant
			Indel variants
			Large SVs
			Chromosomal variation
		Impact of genetic and genomic variation
	Modes of inheritance
		Autosomal Dominant (AD)
		Autosomal Recessive (AR)
		X-linked (XL)
		Mitochondrial
		Imprinting
		Digenic
		Complex inheritance
		Special considerations
			Dual molecular diagnoses
			Mutational burden
			Incomplete penetrance
	Relevance to clinical care
	References
3 Genetic evaluation of an adult
	Introduction
	Approach to the patient
		Phenome-first approach
		Genome-first approach
	Understanding the family context
	How to apply diagnostic DNA technologies
		Clinical cytogenetics and chromosomal analysis
		DNA sequencing
		Choosing the right test
	Understanding the genetic and genomic contribution to disease
		Monogenic disease
		Polygenic disease
	Follow-up and management
	References
4 Genetic counseling for adults
	Introduction
	Finding healthcare providers with genetics expertise
	Resources for patients and clinicians
	Principles of genetic counseling in the evaluation of adults
		Vignette 4.1
		Contracting
		Approaches to history taking
			Personal history—special considerations in adults
			Elements of a pedigree
			Incomplete family history information
		Vignette 4.1 (contd.)
		Patient education and counseling
	Unique considerations for genetics evaluation and testing in adults
		Testing coordination
	Case management for adults
	References
5 Genetic testing in adults
	Introduction
	Basic principles and practical approach to genetic testing in adults
	Cytogenetic testing
		Karyotyping
		Fluorescence in situ hybridization
		Chromosomal microarray
	Sequencing tests
		Single-gene testing
		Panel testing
		Exome sequencing
	Other tests
	Variant interpretation
	Genome sequencing
	Direct-to-consumer testing
	Clinical vignettes
		Vignette 5.1
		Vignette 5.2
		Vignette 5.3
		Vignette 5.4
	References
6 Transitioning to adult care
	Introduction
		Vignette 6.1
	Psychosocial considerations
		Vignette 6.2
	Education and employment
	Health insurance
	Medical decision-making and guardianship
		Vignette 6.3
	Transition planning
	Conclusion
	References
7 Preconception and prenatal care
	Introduction
	Reproductive Carrier Screening
		Assays used for carrier screening
		Practical considerations and limitations of carrier screening
	Maternal screening for fetal aneuploidy
		Multiple marker screening
			First trimester screening
			Second trimester serum screening
			Sequential and integrated screening
		Cell-free DNA screening
		Practical considerations and limitations of cfDNA screening
	Prenatal diagnostic testing
		CVS, amniocentesis, and other procedures
		Genetic testing modalities
	Preimplantation genetic testing
		Forms of preimplantation genetic testing
			PGT-A for aneuploidy and PGT-SR for structural rearrangements
			PGT-M for monogenic disorders
			Practical considerations and limitations
	Parental genetic disease and reproduction
		Examples of genetic disorders that affect maternal and fetal outcomes
			Turner syndrome
			Marfan syndrome, other aortopathies, and collagen disorders
			Phenylketonuria and other inborn errors of metabolism
			Myotonic dystrophy
			Skeletal dysplasias
			Cystic fibrosis
		Vignette 7.1
	References
Sec 2
8 Cancer syndromes
	Introduction
		Sporadic versus inherited
		Personal and family history features suggestive of a hereditary cancer syndrome
	Evaluation for a hereditary cancer syndrome
	BAP1 tumor predisposition syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Birt Hogg Dube
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	DICER1-related pleuropulmonary blastoma familial tumor and dysplasia syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Familial atypical multiple mole melanoma syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
	Hereditary breast and ovarian cancer syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
		Vignette 8.1
			Management
			Genetic counseling
	Hereditary leiomyomatosis and renal cell carcinoma
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Hereditary paraganglioma and pheochromocytoma
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Li–Fraumeni syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Prostate cancer syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
	PTEN hamartoma tumor syndrome includes Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome
		WARNING!!! DUMMY ENTRY
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	References
9 Cardiac disorders
	Introduction
	Cardiomyopathies
		Hypertrophic cardiomyopathy
			Overview
			Evaluation
			Genetic testing
		Vignette 9.1
			Management
		Dilated cardiomyopathy
			Overview
			Evaluation
			Genetic testing
			Management
		Arrhythmogenic right ventricular cardiomyopathy
			Overview
			Evaluation
			Management
		Other cardiomyopathies
			Restrictive cardiomyopathy
			LV noncompaction
			Peripartum cardiomyopathy
	Inherited arrhythmogenic disorders
		Long QT syndrome
			Overview
			Evaluation
			Genetic evaluation
		Vignette 9.2
			Management
		Short QT syndrome
		Brugada syndrome
		Catecholaminergic polymorphic ventricular tachycardia
		Familial hypercholesterolemia
			Overview
			Evaluation
			Genetic testing
		Vignette 9.3
			Management
	Tranthyretin amyloidosis
		Overview
		Evaluation
		Genetic testing
		Management
		CAD risk and 9p21
	References
10 Hereditary connective tissue disorders
	Introduction
	Conditions with a primary vascular phenotype or aortopathy
		Marfan syndrome
			Overview
			Evaluation
			Genetic testing
		Vignette 10.1
			Management
				Surveillance
				Medical management
				Surgical management
				Pregnancy
			Genetic counseling
		Loeys–Dietz syndrome
			Overview
			Evaluation
			Management
				Surveillance
				Medical management
				Surgical management
				Pregnancy
			Genetic testing
			Genetic counseling
		Vascular Ehlers–Danlos syndrome
			Overview
			Evaluation
			Genetic testing
			Management
				Surveillance
				Medical management
				Surgical management
				Pregnancy
			Genetic counseling
		Heritable thoracic aortic disease: smooth muscle disorders
			Overview
			Evaluation
			Management
				Surveillance
				Medical management
				Surgical management
			Genetic testing
			Genetic counseling
		Bicuspid aortic valve
			Overview
			Evaluation
			Genetic testing
			Management
				Surveillance
				Medical management
				Surgical management
			Genetic counseling
	Conditions with musculoskeletal and skin manifestations
		Ehlers–Danlos syndromes
			Overview
		Hypermobile Ehlers–Danlos syndrome
			Overview
			Evaluation
			Genetic testing
			Management
				Surveillance
				Medical management
				Pregnancy
			Genetic counseling
		Classical Ehlers–Danlos syndrome
			Overview
			Evaluation
			Genetic testing
			Management
				Surveillance
				Medical management
				Pregnancy
			Genetic counseling
		Stickler syndrome
			Overview
			Evaluation
			Genetic testing
			Management
				Surveillance
				Medical management
	Other conditions with phenotypic overlap
		Homocystinuria
		Beals syndrome
		Shprintzen–Goldberg syndrome
	References
11 Disorders that impact reproduction
	Introduction
	Disorders that impact male fertility
		47,XXY (Klinefelter syndrome)
			Overview
			Genetic testing
		Vignette 11.1
			Management
			Genetic counseling
		47,XYY (XYY syndrome)
			Overview
		Cystic fibrosis/obstructive azoospermia
			Overview
			Genetic testing
		Vignette 11.2
			Management
			Genetic counseling
		Y Chromosome microdeletions
			Overview
			Genetic testing
			Management
			Genetic counseling
	Disorders that impact female fertility
		45,X (Turner syndrome)
			Overview
			Genetic testing
		Vignette 11.3
			Management
			Genetic counseling
	Disorders that impact both male and female fertility
		Congenital adrenal hyperplasia
			Overview
			Genetic testing
		Vignette 11.4
			Management
			Genetic counseling
		Kallmann syndrome
			Overview
			Genetic testing
		Vignette 11.5
			Management
			Genetic counseling
		Recurrent Spontaneous Abortions (SAB)
			Overview
			Genetic testing
			Management
			Genetic counseling
	Disorders of sex development
		46,XX DSD
			Overview
			Genetic testing
		Vignette 11.6
			Management
			Genetic counseling
		46,XY DSD
			Overview
			Genetic testing
		Clinical Vignette 11.7
			Management
			Counseling
		45,X/46,XY Mixed gonadal dysgenesis
			Overview
			Genetic testing
		Vignette 11.8
			Management
			Genetic counseling
		Other genes affecting gonadal differentiation
	References
12 Endocrine disorders
	Introduction
	Monogenic causes of DM
		Maturity-onset diabetes of the young
			Overview
			Evaluation
		Maturity-onset diabetes of the young 3
		Maturity-onset diabetes of the young 2
		Other forms of MODY
			Genetic testing
		Vignette 12.1
			Management
			Genetic counseling
	Genetic syndromes affecting multiple endocrine glands
		Multiple endocrine neoplasia syndromes
		Multiple endocrine neoplasia type 1
			Overview
			Evaluation
				Parathyroid tumors
				Neuroendocrine tumors of the gastrointestinal system
				Pituitary tumors
				Other manifestations
			Genetic testing
			Management
			Genetic counseling
		MEN1-like phenotypes
		Multiple endocrine neoplasia 4
		MEN2A, MEN2B (MEN3), and familial medullary thyroid cancer
			Overview
			Evaluation
			Genetic testing
		Vignette 12.2
			Management
			Genetic counseling
	Genetic disorders of calcium metabolism
		Familial hyperparathyroidism
		Hyperparathyroidism-jaw tumor syndrome
		Disorders of CASR
		Familial hypocalciuric hypercalcemia
		Familial isolated hyperparathyroidism
	Genetic disorders caused by Gs-alpha subunit
		Pseudohypoparathyroidism-related disorders
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		McCune–Albright syndrome
			Overview
			Evaluation
			Genetic testing
			Management
	Genetic disorders affecting the adrenal glands
		Congenital adrenal hyperplasia
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic testing
		Carney complex
			Overview
			Genetic testing
			Management
		Bilateral macronodular adrenal hyperplasia
			Overview
			Genetic testing
			Management
	References
13 Gastrointestinal disorders
	Introduction
	Diseases of the Colon
		Hereditary CRC and polyposis syndromes
		Lynch syndrome
			Overview
			Evaluation
			Genetic testing
			Vignette 13.1
			Management
			Genetic counseling
		Adenomatous polyposis syndromes
			Overview
			Evaluation
			Genetic testing
			Vignette 13.2
			Management
			Genetic counseling
		Hamartomatous polyposis syndromes
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Diseases of the Stomach
		Gastric cancer
		Hereditary diffuse gastric cancer
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Gastrointestinal stromal tumor
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Diseases of the Pancreas
		Pancreatic cancer
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Recurrent pancreatitis
		Hereditary pancreatitis
			Overview
			Evaluation
			Genetic testing
			Vignette 13.3
			Management
			Genetic counseling
	Diseases of the Liver
		Wilson disease
			Overview
			Evaluation
			Genetic testing
			Vignette 13.4
			Management
			Genetic counseling
		Hemochromatosis
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	References
14 Hematological disorders
	Introduction
	Bleeding disorders
		Overview
			Von Willebrand disease
		Evaluation
		Genetic testing
		Management
		Clotting factor deficiencies
			Overview
			Evaluation
			Genetic testing
			Management
		Women with bleeding disorders
		Platelet disorders
			Overview
			Evaluation
		Hereditary thrombocytopenia with risk of malignancy: RUNX1 familial platelet disorder
			Genetic testing
			Management
	Bone marrow failure disorders
		Fanconi anemia
			Overview
			Evaluation
			Genetic testing
		Telomere disorders
			Overview
			Evaluation
			Genetic testing
			Management
	Thrombophilia
		Overview
		Evaluation
		Genetic testing
		Vignette 14.1
			Management
	Red cell defects
		Red cell enzyme defects
			Overview
			Evaluation
			Genetic testing
		Vignette 14.2
			Management
		Red cell membrane defects
			Overview
			Evaluation
			Genetic testing
			Management
		Hemoglobinopathies
		Sickle cell disease and related syndromes
			Overview
			Genetic testing
		Vignette 14.3
			Management
		Thalassemia syndromes
			Overview
			Evaluation
			Genetic testing
			Management
	Hematological malignancies
		Myeloid neoplasms
		Lymphoid neoplasms
			Diffuse large B-cell lymphoma
			Non-Hodgkin lymphoma
			Hodgkin lymphoma
	References
15 Immunologic disorders
	Introduction
	Disorders with antibody deficiency
		Common variable immunodeficiency
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Selective IgA deficiency
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Bruton X-linked agammaglobulinemia (BXLA)
			Overview
			Evaluation
			Genetic testing
			Management
		Hyper IgE syndrome
			Overview
			Evaluation
			Genetic testing
			Management
		Vignette 15.1
	Disorders with T-cell deficiency
		Ataxia-telangiectasia
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		22q11.2 Deletion syndrome
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Complement deficiencies
		Hereditary angioedema
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Vignette 15.2
	Autoinflamatory disorders
		Familial Mediterranean Fever
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	References
16 Intellectual and developmental disabilities
	Introduction
		Evaluation
		Genetic testing
		Genetic counseling
	Syndromic intellectual disability
		Fragile X syndrome
			Overview
			Evaluation
			Genetic testing
		Vignette 16.1
			Management
			Genetic counseling
		Down syndrome
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		22q11.2 Deletion syndrome
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Nonsyndromic intellectual disability
		Autism spectrum disorder
	Conclusion
	References
17 Metabolic disorders
	Introduction
		Hyperammonemia
			Overview
			Evaluation
			Genetic testing
		Vignette 17.1
		Management of UCDs
		Genetic counseling
	Metabolic stroke
		Overview
		Evaluation
		Genetic testing
		Vignette 17.2
		Management
		Genetic counseling
	Neuropsychiatric symptoms
		Overview
		Evaluation
		Genetic testing
		Vignette 17.3
		Management of cobalamin metabolism disorders
		Genetic counseling
	Rhabdomyolysis
		Overview
		Evaluation
		Genetic testing
		Vignette 17.4
		Management
		Genetic counseling
	Peripheral neuropathy
		Overview
		Evaluation
		Vignette 17.5
		Management
		Genetic counseling
	References
	Recommended reading
18 Mitochondrial disorders
	Introduction
		Mitochondria and the respiratory chain
		Unique features of mtDNA
	Evaluation of mitochondrial disorders
		Laboratory testing
		Imaging studies
		Tissue diagnosis
	Genetic testing
		Management
			Management during critical illness
		Emerging therapies
	Genetic counseling
	References
19 Neurologic disorders
	Introduction
	Neurogenetic disorders
	Movement disorders
		Ataxia
			Evaluation
			Genetic testing
		Vignette 19.1
			Management
			Genetic counseling
		Parkinson disease
			Evaluation
			Genetic testing
		Vignette 19.2
			Management
			Genetic counseling
		Huntington disease
			Evaluation
			Genetic testing
		Vignette 19.3
			Management
			Genetic counseling
	Motor neuron and neuromuscular diseases
		Amyotrophic lateral sclerosis
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Peripheral neuropathies
			Overview
			Evaluation
			Genetic testing
		Vignette 19.4
			Management
			Genetic counseling
		Muscular dystrophies
			Overview
			Evaluation
			Genetic testing
		Vignette 19.5
			Management
			Genetic counseling
	Dementias
		Alzheimer disease
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Frontotemporal dementia
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		CADASIL
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Paroxysmal disorders
		Epilepsy
			Evaluation
			Genetic testing
		Vignette 19.6
			Management
			Genetic counseling
		Headache
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	References
20 Pulmonary disorders
	Introduction
	Obstructive lung disease
		Alpha-1 antitrypsin deficiency
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Cystic fibrosis
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Primary ciliary dyskinesia
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Restrictive lung disease
		Idiopathic familial pulmonary fibrosis
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Spontaneous pneumothorax
		Overview
		Evaluation
		Genetic testing
		Management
	Vascular disorders
		Pulmonary hypertension
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Hereditary hemorrhagic telangiectasia
			Overview
			Evaluation
			Genetic testing
		Vignette 20.1
			Management
			Genetic counseling
	Lung cancer
	References
21 Psychiatric disorders
	Introduction
	Mental health conditions
		Major depressive disorder
		Generalized anxiety disorder
		Schizophrenia
		Bipolar disorders
	Genetic conditions associated with an increased risk for mental illness
		Chromosome microdeletion/duplication syndromes
			Overview
			Evaluation
			Genetic testing
			Genetic counseling
		Single-gene Mendelian disorders
			Overview
			Evaluation
			Genetic testing
		Vignette 21.1
			Management
			Genetic counseling
	References
22 Renal disorders
	Introduction
	Cystic renal diseases
		Autosomal dominant polycystic kidney disease
			Overview
			Evaluation
			Genetic testing
		Vignette 22.1
			Management
			Genetic counseling
		Autosomal recessive polycystic kidney disease
	Inherited glomerulopathies
		Glomerular diseases with hematuria
		Fibronectin glomerulopathy
		Complement factor 3 glomerulopathies
		MYH9-related nephritis
		Alport syndrome
			Overview
			Evaluation
			Genetic testing
			Management
			Surveillance
			Genetic counseling
		Nephrotic syndrome
	Common genetic disorders with renal involvement
		Fabry disease
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Nail-patella syndrome
		Papillorenal syndrome
		Congenital anomalies of the kidney and urinary tract
	Hereditary renal cell carcinoma
		Von Hippel-Lindau syndrome
			Overview
			Evaluation
			Genetic testing
		Vignette 22.2
			Management
	Genomic medicine in adult nephrology
	References
23 Skeletal disorders
	Introduction
	GSDs that present with altered BMD
		Disorders with decreased BMD
		Osteogenesis imperfecta
			Overview
			Evaluation
			Genetic testing
		Vignette 23.1
			Management
			Genetic counseling
		Disorders with increased BMD
		Osteopetrosis
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	GSDs with abnormal bone mineralization
		Hypophosphatemia
			Overview
			Evaluation
			Genetic testing
		Vignette 23.2
			Management
			Genetic counseling
		Hypophosphatasia
	FGFR3-related chondrodysplasia
		Achondroplasia
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	References
24 Skin disorders
	Introduction
	Pigmentation disorders
		Oculocutaneous albinism
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Neurocristopathies
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Multiple lentigines syndromes
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Photosensitivity disorders
		Xeroderma pigmentosum
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Rothmund–Thomson syndrome
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	The porphyrias
		Overview
		Evaluation
		Genetic testing
		Management
		Genetic counseling
	Neurocutaneous disorders
		Neurofibromatosis type 1
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Tuberous sclerosis complex
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
	Disorders of the epidermis
		Nonsyndromic ichthyosis
			Overview
			Evaluation
			Genetic testing
			Management
			Genetic counseling
		Darier disease
			Overview
			Evaluation
			Genetic testing
			Management
		Hailey–Hailey Disease
			Overview
			Evaluation
			Genetic testing
			Management
	Vascular anomalies
		PI3K-related overgrowth spectrum
		RASA1-related disorders
	References
Sec 3
25 Billing and reimbursement
	Introduction
	Referral to a clinical genetic service
	CPT coding for clinical services
		Important terminologies
			Office or outpatient services
			Inpatient services
			New patient
			Consultation
			Office visit
	Documentation
		Based on evaluation and management
			Documentation of history taking
			Documentation of examination
			Documentation of medical decision-making
		Based on time
	New payment models
	Billing for clinical services
		Bill preparation
			Diagnosis/diagnoses
			Service provided
		Billing for genetic counselor services
		Billing for telehealth services
		Claims and denials
			Submitting a claim
			Reasons for denial
			Appealing denials
	Billing for genetic laboratory services
		CPT codes for genetic tests
		Coverage policies
		Reimbursement of genetic testing
			Prior authorization
			Denials of laboratory service claims
			Appeals
	References
26 Telegenetics and other care models
	Introduction
	Use of Telemedicine/Telehealth in adult genetics
		Genetic evaluation
		Genetic service providers
		Provider and patient satisfaction
		TM use for remote patient monitoring
	Equipment and technology for telegenetic services
		Equipment
	Software applications (commonly known as apps)
	Use of telegenetic services to support rural health providers
		Project echo as a model
	E-consults and videoconsults
	Commercial use of telegenetics
	Standards and regulatory policy applicable to TM for genetic services
		Licensure
		Privileging and credentialing
		Documentation for TM services
	Billing and reimbursement for TM services
		Synchronous (live) TM services
			Physician services
			Genetic counselors
			Billing for synchronous TM services
			Reimbursement
			Asynchronous TM services (store and forward)
	Conclusions
	References
27 Ethical, Legal, and Social Implications
	Introduction
	Decision-making and informed consent
		Identifying the decision maker
		Process of informed consent
			Type of test
			Types of genetic results
			Psychosocial risks associated with testing
			Retention of genetic information
			Risks for family members
		Declining and retracting consent
		Vignette 27.1
	Disclosure of results
		Genetic findings
		Vignette 27.2
		Disclosing results
		Impact on family dynamics
		Genetic information and medical records
	Privacy and discrimination
		Vignette 27.3
			Health Insurance Portability and Accountability Act of 1996
			Affordable Care Act
			Americans with Disabilities Act
			Genetic Information Nondiscrimination Act
	References
Sec 4
28 Precision medicine in the genomic era
	Introduction
	Precision medicine initiative
	Applicability of precision medicine in the clinic
		Precision medicine in Mendelian disorders
		Precision oncology
		Precision medicine in CVDs
		Pharmacogenomics
	Direct-to-consumer genetic testing and precision medicine
	Challenges and future directions
	References
29 Pharmacogenomics
	Introduction
	Clinical applications of pharmacogenomics
		Mendelian disorders
		Cancer
		Cardiovascular medicine
		Mental health and pain management
	Clinical resources and adaptation of pharmacogenomics
	Challenges and future directions
	References
30 Gene therapy and gene editing
	Introduction
	Gene therapy strategies and vectors
	Ex vivo gene therapy
	In vivo gene therapy
		Gene therapy for hereditary blindness
		Gene therapy for hemophilias
		Gene therapy for SMA
		Gene therapy for DMD
	Genome editing
	Current status, future challenges, and conclusions
	References
Index
Back Cover