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8 recordsLinked to original sources
PubMed1987

After "Eve": whither proxy decision-making?

One of the most difficult problems facing physicians is how to approach proxy decisions made on behalf of congenitally incompetent patients. The author considers two recent court cases that attempt to provide guidelines: Re Stephen Dawson, which opts for a substituted-judgement approach, and Eve v. Mrs E.) which injoins best-interests considerations. The author explores the impact of Eve v. Mrs. E. as superseding Re Stephen Dawson, considers its ethical implications and attempts to clarify the best-interests criterion by sketching some guidelines for its interpretation. In so doing, he tries to reconcile the two decisions by laying bare their common underlying ethical rationale. The author concludes by pointing out some ethically questionable implications of Eve v. Mrs. E. in the area of allocation of health care resources.

Adult↗
PubMed1983

In the matter of Stephen Dawson: right v. duty of health care.

In cases like that of Stephen Dawson the ethics of proxy decision-making are at stake. As long as patients are persons they have rights, the incompetent ones no less than those who are competent. The only difference is that in the case of incompetent persons the rights must be exercised by proxy. The import of the Stephen Dawson case is that by this precedent Canadian law now radically alters the status of incompetent minors in such a way that their rights are curtailed in two fundamental ways. First, the parameter of qualitative considerations that is available to any other person is removed from the armory of the decision-making criteria of incompetent minors and can no longer be employed by the proxy decision-makers. Second, what are rights in the case of competent individuals--the right to life and the right to health care--become duties. Ethically this dénouement is deplorable. The medical profession now not only faces the pragmatically unenviable task of having to save or sustain all incompetent minors so long as medical science will permit but will have to do so even at the cost of quality of life. I shall pass over in silence the ethics of the resource-allocation problem that now arises. As a medical ethicist I can only hope that the medical profession will soon see fit to challenge this decision on a formal basis.

Brain Diseases↗
PubMed2025

Clinical and genetic variant re-analysis among pediatric probands undergoing genetic testing for arrhythmia syndromes.

BACKGROUND: Despite increases in genetic testing, longitudinal data regarding changes in diagnostic yield and variant reclassification for inherited arrhythmia syndromes are limited. OBJECTIVE: Determine longitudinal changes in diagnostic yield and variant classification. METHODS: Single-center retrospective study of probands <18 years undergoing genetic testing for suspected inherited cardiac conditions associated with arrhythmias, 2007 to 2018. Variants were classified as diagnostic (pathogenic/likely pathogenic), non-diagnostic (benign/likely benign [B/LB]), or variants of uncertain significance (VUS). Variant reclassification was performed in October 2023 using VarSome and American College of Medical Genetics criteria. We evaluated results by era (early 2007-2013 vs. later 2014-2018, coinciding with Sanger and next-generation sequencing, respectively) and by likelihood of disease based on clinical evaluation. RESULTS: Of 306 probands, initial testing was 23.2% diagnostic, 55.6% non-diagnostic (33.7% no variant, 21.9% B/LB), and 21.2% VUS. When comparing eras, diagnostic yield decreased (34.1%-15.3%), VUS increased (9.3%-29.9%), and non-diagnostic remained similar (55% to 57%). Variants for 22.7% (46/203) of probands with &#x2265;1 variant changed: 9.9% of diagnostic variants (7/71) downgraded to VUS or non-diagnostic, and 60.0% of VUS changed (23.1% upgraded, 36.9% downgraded). B/LB variants did not change. Probands with higher disease likelihood had 6-times the odds of diagnostic results compared to lower disease likelihood, regardless of era (odds ratio 6.3, 95% confidence interval 3.2-12.4, P < .0001). CONCLUSION: Variant reclassification led to changes in 23% of probands, both downgrading and upgrading status, even among probands initially thought to be pathogenic. When comparing later to earlier eras, VUS variants increased while diagnostic yield decreased. Findings support the need for variant re-interpretation and periodic reclassification over time.

Humans↗