Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders

Abstract

Genetic testing is rapidly becoming an increasingly significant part of the diagnostic armamentarium of neuromuscular clinicians. Although technically easy to order, the results of such testing, whether positive or negative, have potentially enormous consequences for the individual tested and for family members. As a result, ethical considerations must be in the forefront of the physician's agenda when obtaining genetic testing. Informed consent is an important starting point for discussions between physicians and patients, but the counseling embedded in the informed consent process must be an ongoing part of subsequent interactions, including return of results and follow-up. Patient autonomy, including the right to know and right not-to-know results, must be respected. Considerations of capacity, physician beneficence and nonmaleficence, and privacy all play roles in the process. Muscle Nerve 54: 997-1006, 2016.

Ethical Considerations in Neurogenetic Testing

“…Throughout the counseling process, special care should be directed toward detecting and managing patient and caregiver stress, both psychological and physical. 47 Though genetic results may be of great diagnostic utility, particularly for monogenic diseases obeying classical Mendelian inheritance patterns, diagnostic clarity remains difficult to achieve in practice. For monogenic diseases, not all individuals carrying the same causative mutation will necessarily develop disease (incomplete penetrance), and even affected individuals may exhibit differing ages of onset, disease severity, and region-specific symptoms in the nervous system and other organs (variable expressivity).…”

Developing multidisciplinary clinics for neuromuscular care and research

“…The identification of novel disease‐causing mutations has expanded our understanding of underlying pathogenic mechanisms of neuromuscular and neurodegenerative disease . Also, the availability of genetic testing to provide definitive, rapid, non‐invasive, and specific diagnostic information has been welcomed by most neuromuscular physicians, although practices vary and clinicians face new challenging discussions about the ethical implications of genetic testing …”

“…This, in turn, may increase the pressure to screen asymptomatic at‐risk individuals . This is viewed by some as a powerful opportunity to advance medicine and by others as a costly, gnarly, and unintended consequence of genetic testing …”

“…49 Also, the availability of genetic testing to provide definitive, rapid, non-invasive, and specific diagnostic information has been welcomed by most neuromuscular physicians, although practices vary 50 and clinicians face new challenging discussions about the ethical implications of genetic testing. 51,52 The impact of the broad adoption of genetic testing for diagnosis on the quality of clinical care is still being examined. 53 Genetic testing can reduce the diagnostic burden on patients by reducing the need for invasive diagnostic procedures such as muscle biopsy and, at the same time, reduce diagnostic delay.…”

MELAS Syndrome: An Update

“…Patients with MELAS and their families would benefit from genetic counselling to inform of the probability of transmission of the disorder to the next generation and provide social and psychological support [11]. Siblings of MELAS patients could also choose to undergo genetic testing to determine if they are also affected.…”