Bioethics at the bedside

Case: “Please don’t write this 
diagnosis in my child’s chart”

OBJECTIVES

1. To recognize and articulate an ethical dilemma that may be present in everyday practice.

2. To identify relevant ethical issues.

3. To explore possible options for resolution.

CLINICAL CASE (FICTIONAL VIGNETTE BASED ON CUMULATIVE CLINICAL CASE EXPERIENCE, ANY RESEMBLANCE TO AN ACTUAL PATIENT IS ENTIRELY COINCIDENTAL)

A 6-month-old child with a history of congenital heart disease and dysmorphic features was referred to Clinical Genetics. His features were felt to be consistent with Noonan syndrome and a targeted genetic test was offered to parents to look for this diagnosis as a potential unifying genetic cause. Parents consented to the test, which involved understanding the risks and benefits of the test and the different types of results that could be returned. The results returned a few weeks later and confirmed the suspected clinical diagnosis of Noonan syndrome, with a pathogenic variant found. Upon receiving this news, parents both expressed that they did not wish for this diagnosis to be written in the child’s chart. They felt this genetic “label” would lead to stigmatization and poor care. A Bioethics consult was requested. How should this situation be handled?

Our approach to this dilemma is to first identify the specific ethical concern and the alternate points of view. Bioethical principles or moral theories can then be applied to understand how different courses of action might be justified or discouraged. There might be more than one appropriate course of action to address the situation: a careful articulation of the moral underpinnings of the chosen course is essential to ensure an ability to modify this course when any new developments arise.

IDENTIFY THE CONCERN

The parents’ main concern in this case is the potential harm to their child from a genetic diagnosis-as-label; their argument is one of non-maleficence. Their main fear is that such labeling might constrain clinicians from fully exploring any medical complications that might arise in their child’s future (e.g., developmental disabilities might be attributed to his syndrome rather than explored in the usual fashion). They feel that this anchoring bias might diminish their child’s overall quality of care, potentially leading to missed diagnoses distinct from the underlying condition.

DETERMINE ALTERNATE POINTS OF VIEW

The clinicians in this case feel strongly that a genetic diagnosis provides important information for healthcare providers regarding the medical and developmental comorbidities to monitor and manage. While not true of all genetic diagnoses, in this case there are specific medical management recommendations and Noonan-specific growth charts that would allow the child to be cared for within the spectrum of knowledge generated from other children with this same diagnosis. The clinicians argue that establishing a diagnosis of Noonan syndrome is not so much a label but rather a way to ensure that the child benefits from pro-active developmental support and medical care. Other concerns are practical and medico-legal, a reluctance to contravene truth-telling (within their professional sphere) by omitting an important diagnostic test result from the child’s medical record.

BIOETHICAL PRINCIPLES

This case covers multiple bioethical issues, including issues related to consent and capacity, fiduciary responsibilities, parental agency, and best interests of the child.

Consent

Generally speaking, young children lack the capacity to make medical decisions, and so their parent/s (or other designated decision-maker) consent on their behalf in accordance with the best interests standard as per Ontario’s Health Care Consent Act (1). Valid informed consent dictates that the consenting party understands and appreciates the consequences of the intervention (2) and it was felt that in this case parents had consented to the genetics assessment and had received pre-test counseling with the option of not pursuing molecular testing for the suspected condition. There was no explicit mention that once a diagnosis was achieved, it would become part of the child’s medical record; some might say this should be part of the consent discussion while others will hold this to be implicit in any consent to such testing. Interestingly, genetic consultation is not mandatory; this family might have declined assessment and testing, which would have raised distinct ethical questions regarding the potential harms of not diagnosing a genetic condition. That this family did pursue testing highlights the issue at stake here, namely, whether parents can have the final diagnostic label excluded from the chart without necessarily excluding other consequences of that diagnosis.

Best interests and consideration of harm

The best interests standard in medical ethics refers to the notion that current (and future) best interests of an incompetent individual be central in decision-making (3). Many would argue that a complete and accurate diagnosis in the child’s chart is in the child’s best interests as it allows for disease-specific screening, surveillance, and prognostication based on an evolving knowledge base. If ever the child presented in an emergency situation or if something were to happen to parents, this information would not be of benefit to the child if not documented someplace securely. This patient’s parents bring a different focus to the child’s best interests, fearing the potential stigma and discrimination that a genetic diagnosis might entail (4). They see this diagnosis as bringing lifelong harm based on their own experiences and beliefs. Unfortunately, their concern for how some might see their child is not without foundation, but the assignment of a diagnosis is important for this child’s health and is not mutually exclusive of a path in which that child’s personhood can be affirmed and supported. In this case, parental agency is constrained by the tangible harms posed by the unconditional omission of a diagnosis from the child’s medical record.

Fiduciary responsibility, obligations for documentation, and rights to medical records

The information in the medical record belongs to the patient (Supreme Court of Canada, 1992), and the person or institution responsible to create the record is the custodian (5). As such, physicians or institutions safeguard the physical medical record, but patients have a general right of access to the information (unless there is a significant likelihood that that information will affect their physical, mental, or emotional health, or cause harm to a third party in which case nondisclosure is allowed). Additionally, patients can place conditions or restrictions on who has access to their information including providers within the circle of care for which reasonable efforts are expected to be made to accommodate (6).

The physician is responsible for making a correct diagnosis and ensuring ongoing appropriate care and monitoring of the patient. That is to say, the physician is responsible for the accuracy of the medical record. A fiduciary duty is one where you must act in the best interests of another person. As such, the fiduciary duty of the physician is to the patient (in this instance the incapable child) and negotiating safe appropriate follow-up and monitoring for known expected sequelae from the genetic diagnosis would be of high importance. The potential to fracture the therapeutic relationship with the family such that they mistrust or fail to seek medical support for their child must also be considered in the balance of harms to the child.

EXPLORE POSSIBLE OPTIONS

Discussions with relevant parties, including parents, care providers, social work, health records, legal, and privacy through a Bioethics consultation helped guide an exploration of actions to consider. The request by the surrogates was explored to understand the concerns arising from documentation. In a longitudinal follow-up where a physician-patient/family relationship can be further established, there may be opportunity to delay documenting the specific syndromic label while discussing and exploring concerns. If no imminent harm is anticipated from honoring the parents’ request by delaying formal documentation of the diagnosis, and if the child’s medical well-being is ensured by continued follow-up and anticipatory care by the medical team (based upon the unwritten diagnosis), then one can conceivably maintain a trusting therapeutic alliance while continuing to revisit the parental hesitation regarding the charting.

Should the issue be one of mistrust in the diagnosis, families should be given appropriate information on the accuracy of the diagnostic method and are also entitled to a second opinion on the diagnosis. The physician cannot willfully obscure the diagnosis or mislabel the syndrome as this would risk future harm to the child. In diagnoses where future harm or discrimination is of high likelihood, careful attention to mitigating this harm should be undertaken and/or discussed with the patient and family such that appropriate future health care and diagnoses of secondary conditions will be accurate.

The clinician must at all times be responsible for the accuracy of the information and therefore cannot be forced to remove or replace a diagnosis that they deem to be present. The patient (or surrogate) can at most add an addendum in the medical record stating their disagreement with said diagnosis or belief in alternate diagnosis.

In sum, the options available would be 1) to insist upon charting the genetic diagnosis at the risk of fracturing the therapeutic relationship, 2) allowing the diagnosis to be withheld and relying on astute paediatricians to revisit the diagnostic genetic label at a later time, or 3) deferring any definitive charting of the genetic diagnosis, relying on a longitudinal relationship with the family to ensure appropriate medical follow-up and to determine when the diagnosis might be charted.

CASE CONCLUSION AND WRAP-UP

In this case, the physician felt comfortable omitting the syndrome name in an effort to build trust with the family, but did include medical recommendations for screening in a general way such that disease-specific screening could be initiated. This allowed for the medical benefits of surveillance and screening while respecting the parents’ wishes to avoid the potential for bias and discrimination. The parents were engaged in this decision and understanding of the need to ensure appropriate medical follow-up; they also agreed to meet with other parents whose children had navigated the same diagnosis, in order to reflect on how to promote their child’s well-being. Of note, parents did not ask to redact the genetic test results, so a seasoned clinician might very well have been able to connect the dots. This may, however, lead to another clinician entering a diagnosis in the chart, or seeking additional genetic testing confirmation, which may lead to more harm or, at the very least, a recurrent conundrum with the family.

Although this situation was encountered in a Genetics clinic, one can imagine similar scenarios unfolding in a general paediatric practice or other subspecialty area. Hence, it is important to incorporate the application of ethical considerations within clinical practice and consultation as needed.

Although the specific request may be uncommon, this case illustrates the need to both explore the considerations underlying the request and to recognize that although legal rulings such as the Genetic Non-discrimination Act may impact or lessen social stigma surrounding genetic diseases, family concerns for stigmatization may remain.

Funding: There are no funders to report for this submission.

Potential conflicts of interest: All authors: No reported conflicts of interest. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed.