Genetic Testing Care, Consent and Liability

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ISBN: 9780471649878 | 0471649872
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Copyright: 1/30/2006

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A complete review of the issues with specific recommendations and guidelines. With over 1,000 tests commercially available, genetic testing is revolutionizing medicine. Health care professionals diagnosing and treating patients today must consider genetic factors, the risks and limitations of genetic testing, and the relevant law. Genetic Testing: Care, Consent, and Liability offers the only complete, practical treatment of the genetic, clinical, ethical, and legal issue surrounding genetic testing. The authors present protocols, policies, and models of care that are currently in use, and explain the legal framework for genetic testing and counseling that has developed in North America, particularly with regard to the law of medical malpractice. This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. Davis, JonBeckwith, Lisa Geller, Mark A. Hall, Andrew R. MacRae, David Chitayat, Roxanne Mykitiuk, Stephanie Turnham, Mireille Lacroix, Jinger G, Hoop, Edwin H, Cook, Jr., S. H. Dinwiddie, Elliot S. Gershon, C. Anthony Rupar, Lynn Holt, Bruce R. Korf, Anne Summers, S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, Erik C. Thorland, Timothy Caulfield, Lorraine Sheremeta, Richard Gold, Jon F. Merz, David Castle, Peter J. Bridge, JS Parboosingh, Patricia T. Kelly, Julianne M. O'Daniel, Allyn McConkie-Rosell, Beatrice Godard, Bartha Maria Knoppers, David Weisbrot. The coverage also includes: Genetic screening, including prenatal, neonatal, carrier, and susceptibility testing Diagnosis, risk assessment, confidentiality, and clinical/legal issues related to follow-up Interpreting test results and communicating them to patients psychological considerations Informed consent Family history evaluations Referral to medical geneticists and genetic counselors Genetic Testing Care, Consent, and Liability is a must-have resource for clinical geneticists, genetic counselors, specialists, family physicians, nurses, public health professionals, and medical students.

Contributors

xix

Foreword

xxiii

1 Genetic Counseling and the Physician—Patient Relationship

(23)

Overview

(1)

Introduction

(1)

Core Concepts

(1)

Trust, Genetic Testing, and the Physician—Patient Relationship

(2)

Genetic Counseling and the Physician—Patient Relationship

(1)

Nondirectiveness

(3)

Web Resources

(2)

Genetic Counseling Approach to Genetic Testing: Nancy P. Callanan and Bonnie S. LeRoy

(13)

Introduction to Genetic Counseling

(1)

Historical Perspective and the Role of Nondirectiveness in Genetic Counseling

(1)

Practice of Genetic Counseling Today

(1)

Genetic Counselor Goals

(1)

Important Cultural Considerations in Genetic Counseling

(1)

Factors That Promote Effective Genetic Counseling

(1)

Genetics in Mainstream Medical Care: The Emerging Milieu

(1)

Categories of Genetic Testing: Issues to Consider

(4)

Summary

(2)

2 Communication

(29)

Overview

(3)

Need To Know

(2)

Standards

(1)

Watch Out For

(2)

Obligations

(1)

Methods

(1)

Terms, Tone, and Follow-up

(1)

Culture and Communication in the Realm of Fetal Diagnosis: Unique Considerations for Latino Patients: C.H. Browner and H. Mabel Preloran

(13)

Miscommunication and Prenatal Genetic Care

(5)

Idioms and Jargon

(1)

Suggestions

(1)

Cultural Sensitivity

(1)

Genetic Consultation

(1)

Opportunistic Observation

(1)

Translation and Second-Hand Information

(3)

On-Site Translators

(1)

Genetic Consultation

(1)

Interview after Consultation

(1)

Family and Friends as Translators

(1)

Confidence and Trust

(2)

Woman Who Declined Amniocentesis

(1)

Woman Who Accepted Amniocentesis

(1)

Discussion: Communication, Miscommunication, and Genetic Counseling

(2)

Conclusion

(1)

Communication: Clinical Diagnosis: Riyana Babul-Hirji and Cheryl Shuman

(9)

History

(2)

Background and Diagnostic Criteria for NF1

(1)

Molecular Genetics

(1)

Issues

(1)

Introduction

(2)

Client Characteristics: Culture and Intellect

(1)

Educational Tools and Facilitators

(2)

Decision Making: Considerations and Approaches

(3)

3 Psychological Aspects

(26)

Overview

(1)

Introduction

(2)

Scenario 1

(1)

Scenario 2

(1)

Need to Know

(4)

Potential for Psychological Harm

(1)

Potential for Psychological Benefit

(1)

Anxiety and Perceived Risk: Pretest Status of Patient

(1)

Recognizing Psychological Stress

(1)

Coping with Stress Induced by Genetic Counseling and Testing

(1)

Watch Out For

(2)

Factors Affecting Perception

(1)

Standards and Interpretation

(1)

Psychological Aspects of Genetic Testing For Adult-Onset Hereditary Disorders: M.J. Esplen

(18)

Introduction

(1)

Process of Genetic Testing

(1)

Pretest Genetic Counseling Phase

(3)

Posttest Counseling Phase: Disclosure of the Genetic Test Result

(1)

Test Result Indicating Presence of Genetic Mutation

(3)

Negative Test Result Indicating Absence of Genetic Mutation

(1)

Receiving an Ambiguous Genetic Test Result

(1)

Impact of Genetic Testing on the Family

(1)

Societal and Ethical Issues Linked to Psychosocial Outcomes

(1)

Clinical Implications

(3)

Summary

(2)

4 Duty of Care

(6)

Overview

(1)

Need to Know

(1)

Standard of Care

(1)

Watch Out For

(4)

Duty of Care

(4)

5 Family History

(22)

Overview

(1)

Introduction

(4)

Clinical Scenario

(1)

Need to Know

(1)

Family Pedigree

(1)

Watch Out For

(4)

Inaccurate or Incomplete Information

(1)

Prenatal and Neonatal Testing

(2)

Family History in Adult-Onset Disorders

(1)

Importance of Family History in Approaches to Common Chronic Diseases of Adulthood: Maren T. Scheuner

(14)

Overview

(1)

Introduction

(1)

Genetic Risk Assessment Strategies for Individuals

(1)

Review of Family History

(2)

Molecular Testing

(1)

Clinical Genetic Evaluation

(1)

Goals of Genetic Counseling and Education

(1)

Approach to Genetic Counseling and Education

(3)

Pedigree Analysis

(1)

Personal History

100

(1)

Physical Examination

101

(1)

Genetic Testing

102

(2)

Management and Prevention

104

(2)

Summary

106

(1)

6 Referral and Diagnosis

107

(21)

Overview

107

(1)

Case Scenario

107

(1)

Need to Know

108

(2)

Approaches to Diagnosis of Genetic Disease

108

(2)

Web Resources

110

(1)

Watch Out For

110

(7)

Competency and the Obligation to Refer

110

(1)

Prenatal/Neonatal Diagnosis

111

(2)

Wrongful Birth

113

(2)

Wrongful Life

115

(1)

Wrongful Abortion

116

(1)

Criteria for Referral

117

(3)

Watch Out For

120

(3)

Referral and Primary Care Physicians

120

(3)

Genetic Testing And Tort Actions: Dena S. Davis

123

(5)

Introduction

123

(1)

Wrongful Birth

123

(1)

Elements of a Tort Claim

124

(1)

Wrongful Life

125

(1)

Wrongful Adoption

126

(2)

7 Informed Consent

128

(35)

Overview

128

(1)

Informed Consent

128

(2)

Legal Models of Informed Consent

130

(1)

Genetics Model of Informed Consent

131

(3)

Disclosure and Consent

132

(2)

Watch Out For

134

(2)

Test Validity and Utility

134

(2)

Process Issues

136

(7)

Communication

136

(1)

The Form

137

(1)

Place and Time Allocated for Discussion

138

(1)

Timing of Discussion

139

(1)

Tone and Manner

139

(1)

Delegation

140

(1)

Cultural and Socioeconomic Differences

140

(1)

Linguistic Differences

141

(1)

Pamphlets, Videos, and Computer Aids

142

(1)

Web Resources

143

(3)

Genetic Discrimination: Anticipating the Consequences of Scientific Discovery: Jon Beckwith and Lisa Geller

146

(10)

Introduction

146

(3)

Has Genetic Discrimination Increased Since Inception of Human Genome Project?

149

(2)

More Complications: Predictive Complexity and Genetic Conditions

151

(2)

Current Legal Status

153

(1)

The Future

154

(2)

Insurance and Genetic Discrimination: Mark A. Hall

156

(7)

Introduction

156

(1)

Health Insurance

157

(3)

Life and Other Insurance

160

(3)

8 Prenatal Screening and Diagnosis

163

(56)

Overview

163

(1)

Introduction

163

(1)

Need to Know

164

(2)

Core Concepts

164

(1)

Prenatal Screening

164

(1)

Prenatal Diagnostic Testing

165

(1)

Preimplantation Genetic Diagnosis

166

(1)

Access to Prenatal Screening and Diagnosis

166

(1)

Obligations of the Health Care Provider in Prenatal Screening and Diagnosis

166

(1)

Societal Issues and Public Policies Relating to Prenatal Screening and Diagnosis

166

(1)

Prenatal Screening: Andrew R. MacRae and David Chitayat

167

(22)

Scenario

167

(1)

Basic Concepts of Prenatal Screening

167

(3)

Screening for Neural Tube Defects

169

(1)

Metabolism of AFP and screening for ONTD

170

(3)

Diagnostic Tests for ONTD

173

(2)

Detailed Ultrasound Examination in ONTD

173

(1)

AFAFP and AChE

174

(1)

Prenatal Screening for Down Syndrome

175

(3)

Placental-Derived Markers

178

(1)

Chorionic Gonadotrophin

178

(1)

Dimeric Inhibin A

178

(1)

Pregnancy-Associated Plasma Protein A

179

(1)

Fetal-Derived Markers

179

(2)

Alpha-fetoprotein

179

(1)

Unconjugated Estriol (uE3)

179

(1)

Fetal Ultrasound Nuchal Translucency

179

(2)

Second-Trimester Down Syndrome Screening

181

(1)

First-Trimester Screening for Down Syndrome

182

(1)

Integrated First- and Second-Trimester Screening

182

(1)

Contingent Sequential Screening for Down Syndrome

183

(1)

Screening for Trisomy 18

183

(1)

Second-Trimester Screening for Trisomy 18

183

(1)

First-Trimester Screening for Trisomy 18

184

(1)

Integrated Biochemistry-Only Screening for Trisomy 18

184

(1)

Second-Trimester Ultrasound Markers for Trisomy 21

185

(3)

Increased Nuchal Fold

185

(1)

Hyperechoic Bowel

186

(1)

Shortened Limbs

186

(1)

Echogenic Intracardiac Focus

187

(1)

Renal Pyelectasis

187

(1)

Nasal Bone Abnormalities

188

(1)

Summary

188

(1)

Prenatal Diagnosis and Preimplantation Genetic Diagnosis: Legal and Ethical Issues: Roxanne Mykitiuk, Mireille Lacroix, and Stephanie Turnham

189

(30)

Introduction

190

(1)

Prenatal and Preimplantation Genetic Diagnoses Techniques

190

(1)

Prenatal Diagnosis

190

(2)

Preimplantation Genetic Diagnosis

192

(1)

Access to PND and PGD

193

(1)

Evidence-Based Access: Standards of Usefulness

193

(1)

Practice Guidelines

194

(3)

Ethnicity

194

(1)

Family History

194

(1)

Pregnancy History

195

(1)

Maternal Age

195

(1)

Ultrasound Examination and Biochemical Markers (Maternal Serum Screening)

196

(1)

Other Medical Factors

196

(1)

Obligations of the Health Care Provider

197

(1)

Public Policy Concerns

198

(1)

Sex Selection

198

(2)

Testing for Susceptibility and Late-Onset Conditions

200

(1)

Selecting for Disability

201

(3)

Potential Stigmatization of Persons with Disabilities

202

(1)

Where Do We Draw the Line?

203

(1)

Abortion Law: The United States and Canada

204

(2)

The United States

204

(1)

Canada

205

(1)

Informed Consent and Genetic Counseling

206

(2)

Barriers to Informed Consent in the PND Context

208

(1)

Informed Consent for PND: What to Include in the Discussion

209

(5)

Information about the Procedures

209

(2)

Information about the Genetic Conditions

211

(1)

Range of Options Available upon Finding an Abnormal Result

212

(1)

Social Aspects of Disability and Raising a Disabled Child: Stigma, Prejudice, and Access to Resources

213

(1)

Social Pressures to Make the "Right" Decision

213

(1)

Emotional and Psychosocial Counseling as Part of the Informed Consent Process

214

(1)

Pre- and Posttest Counseling

214

(2)

Follow-up Counseling

215

(1)

Structuring the Genetic Counseling Session

215

(1)

Informed Consent and Preimplantation Genetic Diagnosis

216

(1)

Final Thoughts: Can Genetic Counseling be Nondirective?

216

(1)

Confidentiality

217

(2)

9 Genetics of Common Neurological Disorders

219

(19)

Overview

219

(1)

Introduction

220

(1)

Need to Know

220

(2)

Genetics of Neurological Disease

220

(1)

Alzheimer's Disease

220

(1)

Parkinson's Disease

221

(1)

Autism

221

(1)

Epilepsies, Schizophrenia, and Bipolar Disorders

222

(1)

Watch Out For

222

(1)

Debatable Value of Genetic Testing

222

(1)

Neurogenetics, Behavior, and Neurodegenerative Disorders: Jinger G. Hoop, Edwin H. Cook Jr., Stephen H. Dinwiddie, and Elliot S. Gershon

223

(15)

Introduction

223

(1)

Research Methods in Neurogenetics

223

(2)

Genetics of Alzheimer's disease

225

(1)

Genetics of Parkinson's Disease

226

(2)

Genetics of the Epilepsies

228

(2)

Genetics of Autism

230

(1)

Genetics of Schizophrenia

231

(1)

Genetics of Bipolar Disorder

232

(1)

Genetics of Conduct Disorder

233

(1)

Emerging Issues in Neurogenetic Testing

234

(2)

Conclusion

236

(2)

10 Newborn and Carrier Screening

238

(30)

Overview

238

(1)

Introduction

238

(1)

Need to Know

239

(2)

Core Concepts

239

(2)

Newborn Screening: C. Anthony Rupar

241

(13)

Introduction

241

(1)

Development of Newborn Screening Programs

242

(2)

PKU and Congenital Hypothyroidism

242

(1)

MCAD Deficiency

243

(1)

Confirmation of Positive Screening Test Results

244

(1)

Newborn Screening Policies

244

(2)

Principles of Newborn Screening

244

(1)

Systems Approach to Newborn Screening Programs

245

(1)

Legal Implications

246

(1)

Consent

246

(1)

Criteria for Selection of Disorders Suitable for Screening

247

(5)

Test Characteristics

247

(1)

Cost-Effectiveness

248

(2)

Newborn Screening Technologies

250

(2)

Current Status of Newborn Screening

252

(1)

Future Issues

253

(1)

System Development

253

(1)

Education

253

(1)

Inclusion Criteria

253

(1)

Screening for New Types of Diseases

254

(1)

Carrier Screening: Lynn Holt and Bruce R. Korf

254

(14)

Introduction

254

(1)

Case History

255

(1)

Need To Know

256

(11)

Development of a Screening Protocol

256

(2)

Current Status of Carrier Screening

258

(1)

Cystic Fibrosis

258

(5)

Common Diseases in the Ashkenazi Jewish Population

263

(3)

Other Potential Areas of Genetic Carrier Screening

266

(1)

Conclusion

267

(1)

11 Susceptibility Testing

268

(24)

Overview

268

(1)

Goals and Applications of Susceptibility Testing

268

(1)

Benefits and Risks of Susceptibility Testing

269

(1)

Examples of Susceptibility Testing

270

(3)

Hereditary Hemochromatosis

270

(2)

Alpha-1-Antitrypsin Deficiency

272

(1)

Hereditary Breast/Ovarian Cancer Syndromes

273

(3)

Hereditary Colorectal Cancer Syndromes

276

(3)

Hereditary Nonpolyposis Colon Cancer

276

(2)

Familial Adenomatous Polyposis

278

(1)

Susceptibility Testing in Children

279

(3)

Issues Arising in the Genetic Testing of Children and Adolescents

279

(1)

Values, Guiding Principles, and Recommendations

280

(2)

Genetic Susceptibility Testing: Anne Summers

282

(10)

Case Scenario

282

(1)

Introduction

283

(1)

Points for Discussion

284

(1)

Health Care Planning and Genetic Susceptibility Testing

285

(1)

Who Will Provide Genetic Susceptibility Testing?

285

(1)

Understanding Risk

286

(1)

Risk Prediction vs. Diagnosis

287

(1)

Ethical Concerns Associated with Genetic Susceptibility Testing

287

(1)

Genetic Discrimination

287

(1)

Genetic Determinism

288

(1)

Genetic Reductionism

288

(1)

Genetic Susceptibility Testing in Children

288

(1)

Testing for Disease vs. Traits

289

(1)

Testing for Multiple Genes Simultaneously

289

(1)

Direct to Consumer Testing

290

(1)

Government and Genetic Susceptibility Testing

291

(1)

Summary

291

(1)

12 Test Samples and Laboratory Protocols

292

(48)

Overview

292

(1)

Scenario 1

292

(1)

Scenario 2

293

(1)

Types of Genetic Tests

294

(2)

Need to Know

296

(11)

Burden of Disease: Indications for Testing

296

(1)

Chromosomal Anomalies as Causes of Developmental Disorders

297

(5)

Molecular and Biochemical Genetic Diagnosis of Disease

302

(5)

Watch Out For

307

(3)

Ordering and Interpretation of Tests: Obligations for the Clinician

307

(2)

Laboratory Performance: Obligations for Laboratories

309

(1)

Additional Considerations

310

(4)

Use of Research Testing in Clinical Management

310

(1)

Use of Archived Specimens

311

(1)

Consent to Store Specimens Compared to Consent to Test

311

(1)

Limitations of Test Methodologies

312

(1)

Clinical Significance of Test Results

312

(1)

Process Issues

313

(1)

Health Care Systems and International Laboratory Practices

314

(1)

Complexities in Ordering and Interpreting Genetic Testing: S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, and Erik C. Thorland

314

(14)

Introduction

314

(1)

Considerations Before Ordering Genetic Testing

315

(1)

Availability of Genetic Testing

315

(2)

Who Should Be Tested?

317

(1)

Types of Genetic Testing

318

(1)

Choosing a Testing Laboratory

319

(1)

Utilizing New Technologies

320

(1)

Ordering Process

321

(1)

Providing Physician and Patient Information

321

(1)

Sample Requirements

322

(2)

Reporting and Interpreting Results

324

(3)

Quality Systems in the Laboratory

327

(1)

Posttest Recommendations

327

(1)

Summary

328

(1)

Informing Genomic Patent Policy: Timothy Caulfield, Lorraine Sheremeta, E. Richard Gold, Jon F. Merz, and David Castle

328

(12)

Introduction

328

(1)

Human Gene Patent Debate

329

(2)

Role of Patents in Stimulating Innovation

331

(2)

Impact of Patents on the Research and Clinical Environment

333

(2)

Impact of Gene Patents on Clinical Genetic Testing Services

335

(1)

Myriad Genetics

336

(1)

Conclusion

337

(3)

13 Risk Assessment

340

(15)

Overview

340

(1)

Introduction

340

(1)

Need to Know

340

(2)

Watch Out For

342

(1)

Risk Assessment: Peter J. Bridge and Jillian S. Parboosingh

343

(12)

Introduction

343

(1)

Approach to Risk Calculation

344

(1)

Case Examples

345

(7)

Case 1: Huntington Disease

345

(1)

Case 2: Cystic Fibrosis

346

(1)

Case 3: LDL Receptor and Heart Disease

347

(1)

Case 4: FGFR3, Achondroplasia, and Thanatophoric Dwarficsm

347

(1)

Case 5: Null Alleles

348

(1)

Case 6: Founder Mutations and Breast Cancer Gene Testing

349

(1)

Case 7: Linkage Analysis and Alport Syndrome

350

(2)

Laboratory Test Limitations (Disclaimers)

352

(1)

Summary

353

(1)

Appendix: Mutation Nomenclature

353

(2)

14 Test Results: Communication and Counseling

355

(43)

Julianne M. O'Daniel, Allyn McConkie-Rosell

Overview

355

(1)

Web Resources

356

(1)

Pretest Factors That Influence Successful Giving of Genetic Test Results

357

(1)

Case Examples

358

(1)

Comprehension of Genetic Tests and Communicating Risk

359

(4)

Interpretation of the Test Result

363

(2)

Practical Steps to Communicating Genetic Test Results

365

(6)

Case Discussion

371

(7)

Utilizing Additional Resources

378

(1)

Follow-up and Aftercare

378

(2)

Psychological Aspects

380

(1)

Conclusion

380

(2)

Cancer Risks in Perspective: Information and Approaches for Clinicians: Patricia T. Kelly

382

(16)

Case Histories

382

(1)

Introduction

383

(1)

Average Woman's Risk of Breast and Ovarian Cancer

384

(1)

Diagnosis or Prognosis

385

(1)

Family History of Cancer

385

(6)

Signs of Increased Hereditary Risk

385

(1)

Origin of Hereditary and Nonhereditary Cancers

386

(1)

BRCA Mutations and Genetic Testing

387

(1)

Risks Associated with BRCA Mutations

388

(2)

BRCA Mutations and Breast Conservation

390

(1)

Decision Making

391

(1)

Tamoxifen and Breast Cancer Prevention

391

(1)

Bilateral Breast Cancer Risk

391

(3)

Average Risk

391

(1)

Tamoxifen

392

(1)

Family History of Breast Cancer

392

(1)

BRCA Mutation Carriers

393

(1)

Invasive Lobular Carcinoma

394

(1)

Hormone Replacement Therapy

394

(3)

Family History of Breast Cancer

394

(1)

Women's Health Initiative Study

394

(3)

Conclusion

397

(1)

15 Confidentiality, Disclosure, and Recontact

398

(27)

Overview

398

(2)

Genetic Test Results and Disclosure

400

(3)

Legal Perspectives

403

(4)

Duty to Warn

403

(1)

Duty to Warn: Genetic Information

403

(4)

Risks and Harm

407

(1)

Conclusion

408

(1)

Web Resources

408

(1)

Emerging Duties Re: Professional Disclosure: Béatrice Godard and Bartha-Maria Knoppers

409

(6)

Introduction

409

(1)

Communication of Results in Research Settings

410

(1)

Duty to Recontact in Clinical Settings

411

(2)

Duty to Warn Family Members

413

(1)

Discussion

414

(1)

Ethical, Legal, and Practical Concerns about Recontacting Patients to Inform them of New Information: The Case in Medical Genetics: Alasdair Hunter, Neil Sharpe, Michelle Mullen, and W.S. Meschino

415

(28)

Overview

416

(1)

When Is Recontact Appropriate?

417

(1)

Service Implications

418

(1)

Does the Patient Want to Know?

418

(1)

Patient Obligations

419

(1)

Methods of Contact

420

(1)

Legal Aspects

421

(2)

Continuing Duty of Care

421

(1)

Do Legal Precedents Support Recall?

422

(1)

Duty to Protect Third Parties

422

(1)

Drugs and Devices

423

(1)

Information-Only Services

423

(1)

Summary

424

(1)

Appendix 1 New Genetics and the Protection of Information

425

(18)

David Weisbrot

Appendix 2 Web Resources

443

(10)

References

453

(114)

Index

567

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Genetic Testing Care, Consent and Liability

Summary

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Genetic Testing Care, Consent and Liability

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