Genetic testing in the perimortem period—immediately before or after a patient’s death—involves unique ethical and logistical issues in pediatric hospitals. Genetic testing may be necessary to confirm an underlying diagnosis, yet testing may not be medically necessary because the results will not change medical care for the child.
Historically, well-meaning clinical teams at our institution promised unnecessary genetic testing to families. When the Laboratory Test Stewardship Committee would determine that a test was not medically necessary, it led to stress for families, providers, and the laboratory teams, particularly when a family was emotionally invested in the test plan.
In 2017 our Laboratory Test Stewardship Committee created a hospital policy for a consistent and fair perimortem genetic testing process to deal with these dynamics. The committee drafted the policy based on our institution’s existing genetic testing medical necessity criteria and consulted with clinical stakeholders from departments across the hospital, including genetics, biochemical genetics, neurology, cardiology, hematology/oncology, neonatal intensive care unit hospitalists, and pathology.
The hospital Medical Executive Stewardship Committee then approved the policy, which has four main elements:
- Genetic testing is approved when medically necessary for a child’s care;
- Genetic testing is approved when necessary to guide care of presymptomatic pediatric relatives at high risk for the genetic condition in question;
- Genetic testing that has prenatal or adult genetic counseling benefits to a family may be performed, but the family assumes financial responsibility for any related charges;
- DNA banking and autopsy should be offered.
DNA banking allows a family to pursue genetic testing in the future. Autopsy can provide additional pivotal information about the differential diagnosis for a deceased patient and may help direct the most appropriate genetic testing.
Communicating the Plan
We communicated the new policy in several ways, including posting it on our institution’s internal website as an appendix to the lab test stewardship policy and via email to leaders of hospital departments (Links to: Full policy, Example Email). Lab stewardship leaders also offered to present details of the policy to clinical teams.
Importantly, successful implementation required medical teams to be aware of the policy prior to discussions with families about genetic testing options to avoid compliance issues and stress for families, providers, and the laboratory teams. This is particularly important given the unique psychosocial tensions that arise around the time of a patient’s death.
To help guide clinicians, we created an inpatient genetic test coordination flow diagram (Figure 1), as this is the setting in which most perimortem genetic testing requests are made. The diagram begins with guidance to determine if a test meets medical necessity criteria and is needed urgently for inpatient care.
It also provides concise recommendations for options to consider when a test is not medically necessary but may have utility for other family members or provide closure regarding the etiology of a patient’s condition. These options include autopsy, postmortem test coordination, out-of-pocket advance payment for medically unnecessary testing, DNA banking, and research.
In this reference tool we also included our laboratory genetic counseling team’s contact information to encourage conversations about laboratory test stewardship so that the optimal options would be offered to families from the outset. The written policy and inpatient genetic test coordination flow diagram allow efficient dissemination of information to an inpatient team’s primary contact at the beginning of any triage conversation.
Building a Shared Understanding
Prior to implementing this new policy, perimortem genetic test requests often created conflict among providers, families, and the laboratory stewardship team: We lacked a shared understanding of which genetic tests were medically necessary. Our policy now provides a common understanding and reference for fair and consistent application of institutional rules that reduces significant disagreements.
Of note, deferring genetic testing to the postmortem period creates billing challenges. It is uncommon for an insurer to approve genetic testing coverage for a deceased person. Pediatric clinical genetic testing can cost thousands of dollars, an out-of-pocket expense many families in our community cannot afford.
In fact, approximately half of our institution’s patient population is covered by Medicaid. A charitable fund has been initiated to cover a portion of out-of-pocket charges for families who want rational genetic testing that is currently excluded by our hospital’s medical necessity policy.
Much of the success of this policy can be attributed to the team approach we took during its development. Involving multiple stakeholders from the beginning fostered mutual investment and diverse input. This led to a policy that was compliant, practical, and fair. The policy facilitates consistent decision-making regardless of an individual patient’s psychosocial and economic situation during this most difficult time in a patient’s and family’s care.
Darci L. Sternen, MS, LCGC, is a licensed genetic counselor in the department of laboratories and Patient-Centered Laboratory Utilization Guidance Services at Seattle Children’s Hospital in Seattle. Email: firstname.lastname@example.org
Bonnie Cole, MD, is clinical associate professor of pediatric pathology at the University of Washington in Seattle. Email: email@example.com
CLN's Laboratory Stewardship Focus is supported by Seattle Children's Patient-Centered Laboratory Utilization Guidance Services