Liability for misdiagnosis genetic testing

Introduction

Liability for misdiagnosis in genetic testing concerns legal responsibility when a genetic test, its interpretation, or the communication of its result is inaccurate and causes harm to a patient or family member. Genetic testing can influence diagnosis, treatment, reproductive decisions, preventive measures, and assessment of inherited disease. Consequently, an incorrect result can have consequences extending beyond the individual patient.

Misdiagnosis may arise from laboratory error, specimen contamination, incorrect sequencing, failure to detect a variant, misclassification of a genetic variant, inadequate interpretation, failure to update an earlier interpretation, or negligent communication of results. Liability can potentially involve laboratories, geneticists, physicians, hospitals, testing companies, and other healthcare providers.

Forms of genetic-testing error

Genetic-testing errors can broadly be divided into three categories.

A false-negative result occurs when a clinically significant genetic variant is present but the test fails to identify it. A patient may consequently fail to receive appropriate treatment or surveillance.

A false-positive result occurs when a test incorrectly indicates the presence of a disease-associated variant. This can result in unnecessary treatment, additional testing, anxiety, or medical intervention.

A third category involves misinterpretation. The laboratory may accurately identify a genetic variant but incorrectly classify its clinical significance. This is particularly challenging because scientific understanding of genetic variants can change over time.

Medical negligence

The primary basis for liability in many jurisdictions is professional negligence. A claimant generally needs to establish that the healthcare provider or laboratory failed to meet the applicable professional standard and that the failure caused legally recognized harm.

In India, Jacob Mathew v. State of Punjab, (2005) 6 SCC 1 is an important authority concerning medical negligence. The Supreme Court discussed the standard of reasonable professional competence and emphasized that medical professionals should be judged according to appropriate professional standards rather than hindsight alone.

Applied to genetic testing, the question may be whether a reasonably competent laboratory or medical professional would have selected an appropriate test, interpreted the result correctly, considered relevant clinical information, and communicated the result appropriately.

Laboratory responsibility

Genetic laboratories may be independently responsible where errors arise from laboratory procedures.

Potential failures include:

• incorrect sample identification;
• contamination;
• inadequate sequencing;
• failure of quality-control procedures;
• incorrect database interpretation;
• transcription errors;
• reporting the wrong patient result; and
• failure to communicate clinically significant findings.

A laboratory may therefore face direct liability where its own negligence causes injury.

Physician responsibility

A physician's responsibility is not necessarily eliminated merely because a genetic test was performed by an outside laboratory.

Doctors must interpret test results in their clinical context. If a physician receives a suspicious or inconsistent result but fails to investigate further when a reasonably competent practitioner would do so, liability may potentially arise.

Conversely, a physician should not automatically be held liable for an unforeseeable laboratory error where the physician reasonably relied upon an apparently valid test.

Failure to update genetic interpretations

Genetic knowledge changes rapidly. A variant classified as uncertain or benign may later be recognized as clinically significant.

This creates an important question: does a laboratory or physician have a continuing duty to reconsider an old genetic result when new scientific evidence emerges?

The answer depends upon the applicable law, contractual arrangements, professional standards, the nature of the testing service, and whether the provider remains involved in the patient's care.

Where a provider receives significant new information and has an established obligation to reassess or communicate clinically important findings, failure to do so may potentially contribute to liability.

Wrongful birth and reproductive decisions

Genetic misdiagnosis can also affect reproductive decisions. Parents may argue that inaccurate genetic testing prevented them from making an informed reproductive decision.

In some jurisdictions, such claims are known as wrongful birth claims. Courts have approached these claims differently because they involve difficult questions concerning causation, damages, reproductive autonomy, and the value attributed to life with disability.

In Parker v. Columbia Women's Medical Center, Inc., 116 S.W.3d 770 (Mo. Ct. App. 2003), the court considered issues surrounding negligent genetic counseling and reproductive decision-making. Such cases demonstrate the importance of accurate genetic information where medical decisions depend upon the results.

Wrongful life claims

A related but more controversial category is a wrongful life claim, generally brought on behalf of a child alleging that negligent genetic testing or counseling resulted in birth with a serious condition.

Courts have historically been divided on whether such claims are legally cognizable because they require courts to compare existence with disability against non-existence.

The controversy illustrates why genetic-testing liability is not solely a technical issue. It also involves complex questions concerning dignity, disability, causation, and damages.

Informed consent

Genetic testing requires appropriate communication because patients may not understand the implications of test results.

In Samira Kohli v. Dr. Prabha Manchanda, (2008) 2 SCC 1, the Supreme Court of India discussed informed consent and emphasized the importance of adequate information for meaningful medical decision-making.

Where a genetic test has significant implications, inadequate communication about its limitations may therefore become relevant to liability.

For example, patients may need to understand that a negative test does not necessarily eliminate the possibility of a genetic disease because some variants may remain undetectable using a particular testing methodology.

Case law on genetic testing and medical liability

In Safer v. Estate of Pack, 677 A.2d 1188 (N.J. Super. Ct. App. Div. 1996), the court considered whether a physician could have a duty to warn a patient's relatives about hereditary risks. The case is significant because genetic information has implications beyond the individual tested.

The decision illustrates a difficult legal question: whether a healthcare professional's responsibilities concerning genetic information can extend to identifiable biological relatives who may face a similar risk.

Privacy and genetic information

Genetic-test results are highly sensitive personal information. Liability may therefore arise not only from inaccurate testing but also from unauthorized disclosure.

In Justice K.S. Puttaswamy (Retd.) v. Union of India, (2017) 10 SCC 1, the Supreme Court recognized informational privacy as part of the fundamental right to privacy.

Genetic laboratories and healthcare institutions should therefore employ appropriate safeguards for collection, storage, access, disclosure, and retention of genetic information.

Causation

Causation can be particularly difficult in genetic-testing litigation. A claimant must often demonstrate that the inaccurate test actually caused the relevant harm.

For example, if a false-negative test delays diagnosis, the claimant may need to establish that correct diagnosis would probably have resulted in earlier treatment and a materially better outcome.

Similarly, in reproductive cases, the claimant may need to establish that accurate genetic information would probably have changed the relevant decision.

Expert medical and genetic evidence is therefore often essential.

Evidentiary reliability

Courts may scrutinize the scientific reliability of genetic-testing evidence.

In Daubert v. Merrell Dow Pharmaceuticals, Inc., 509 U.S. 579 (1993), the U.S. Supreme Court established principles for assessing scientific expert evidence. Factors such as testability, peer review, error rates, standards, and scientific acceptance can be relevant.

In India, State of H.P. v. Jai Lal, (1999) 7 SCC 280 explains that expert evidence assists courts on specialized matters but does not automatically determine the legal conclusion.

These principles are relevant where competing experts disagree about the accuracy or interpretation of genetic tests.

Regulatory and quality obligations

Genetic laboratories may also be subject to professional accreditation and quality standards. Compliance with applicable standards can become important evidence in negligence proceedings.

Laboratories may need systems for:

• sample identification;
• validation of testing methods;
• quality control;
• proficiency testing;
• interpretation of genetic variants;
• report verification;
• documentation;
• secure data handling; and
• correction of erroneous reports.

Failure to follow established standards may strengthen a negligence claim, although regulatory non-compliance does not automatically establish civil liability in every jurisdiction.

Conclusion

Liability for misdiagnosis in genetic testing is a complex area involving medical negligence, laboratory responsibility, informed consent, genetic privacy, professional standards, causation, and reproductive decision-making.

Indian cases such as Jacob Mathew, Samira Kohli, and Puttaswamy, together with international authorities such as Safer v. Estate of Pack, Daubert, and cases concerning wrongful birth, provide important principles for evaluating responsibility.

The central legal principle is that genetic-testing providers should exercise reasonable professional competence, appropriate quality control, scientifically defensible interpretation, and adequate communication of results and limitations. Where an avoidable testing or interpretation error causes legally recognizable harm, the responsible laboratory, healthcare professional, or institution may potentially be liable, subject to proof of duty, breach, causation, and damages under the applicable law.