Integrating Genomics Into Pediatric Health Care: The Long Road Ahead Free

Genomic sequencing is increasingly prevalent in pediatric health care, serving not only as a diagnostic tool for newborns and children with suspected rare or unknown health conditions but also to guide treatment decisions after a diagnosis has been made. The article by Smith et al in this issue of Pediatrics sheds light on the diverse ways in which genomic information can influence clinical and personal health decisions, such as treatment or intervention options for children who test positive for specific genetic variants linked to childhood health conditions.¹  However, despite the spectrum of potential applications of pediatric genomic data, this article also underscores the significant amount of work still required to integrate genomics into pediatric health care effectively and equitably. Achieving this vision of genomic pediatric health care requires addressing several understudied and underdeveloped questions regarding utility, uncertainty, and equity. These questions are essential for understanding the potential impact of genomic findings on families and for creating a robust genomic health infrastructure that supports families utilizing genomic information for prevention or treatment of genetic conditions.

As genomic screening increases the number of families receiving genomic findings, we must thoughtfully examine how we define utility. Early definitions of clinical utility in genomics typically focused on pharmaceutical or surgical interventions and have expanded over time to include other preventive interventions or harm reduction strategies, including ancillary health services, such as physical and occupational therapy, speech therapy, and educational interventions for developmental delays.²  Moreover, genomic results can help families making long-term care plans or identifying resources for home health needs.³  These personal actions may have significant medical impact on families and have the potential to inform clinical practice, broadening our current understanding of clinical utility to include a wider range of health-related activities and behaviors. Smith et al¹  pointedly separate out clinical and personal health actions, but we must be careful to not let this distinction inadvertently devalue some types of health-related actions not traditionally conceptualized as clinical utility, and thus perpetuate a false dichotomy between clinical and personal utility.

We must also address the impact that uncertain findings may have on families. Not surprisingly, Smith et al¹  found that families receiving positive genomic results were more likely to take clinical or personal health actions. However, recent studies have shown that although genomic screening can improve diagnoses of rare or unknown conditions, it also leads to increased uncertain results for many families.⁴  Even with highly certain genomic results, families may face uncertainty in diagnosis, prognosis, and treatment options. Prior studies of uncertainty in genomics have raised significant concerns that increased genomic screening may lead to a large number of “patients in waiting,” including asymptomatic patients with variants of uncertain significance who may or may not have a particular health condition.⁵  However, there is a dearth of more recent scholarship on the ways in which uncertain genomic findings may harm or benefit families and affect health care decisions. It is essential not only to investigate potential consequences of uncertain genomic results on families, but also to develop effective support for understanding and integrating this uncertain information into their lives and health care decisions, including education on the potential benefits and harms of uncertain findings and long-term access to genetic counseling services.

In addition to expanding our understanding of utility and uncertainty, we must also address wider questions of genomic equity within pediatrics. Although there is significant attention to assuring that genomic information is available to all families, there are growing concerns that persistent disparities in support for follow-up testing or interventions pose significant obstacles to achieving equity in genomic health care. Some of these disparities are also more difficult to measure, such as the burdens of travel to specialty clinics, daycare services, and other day to day needs related to ongoing interventions.⁶  These disparities may be compounded by expensive or inaccessible interventions that may exacerbate existing health disparities by limiting access to families with more resources.⁷  The actual utility of genomic results has also been insufficiently addressed for families from communities historically underrepresented in genomic research.⁸  This may limit the clinical usefulness of some tests for these families.⁹  Finally, the challenge of achieving equity in genomics is often described as unfeasible because of seemingly insurmountable barriers of an inequitable health care system or a concern to be addressed in the future. However, we must strive to build screening systems that prioritize equity as a foundational goal to enable screening for all families.

The data presented in Smith et al¹  illustrate that for some families, genomic findings may serve as an answer to ongoing diagnostic or treatment odysseys. However, we must recognize that for many families, receiving genomic findings may signify the start of a new journey to seek out limited medical options because of pre-existing disparities or to cope with ongoing questions surrounding uncertainty. The authors describe “disentangling” diagnostic and therapeutic odysseys, conceptually separating the potential uses of genomic findings as either a diagnostic tool or an aid for making treatment decisions.¹  Although doing so may help to more precisely define the different ways these data may be of value, we must be careful to not obscure the experiences of families dealing with rare or undiagnosed conditions. Their “odysseys” are not compartmentalized or disconnected clinical encounters or medical decisions, but rather an ongoing continuum bounded by fear, uncertainty, and hope. We must look for ways that genomics can become a beneficial companion along that journey. For example, developing a patient-centered genomic “medical home” approach may allow families to work collaboratively with genetic counselors, health navigators, and other clinicians to evaluate and coordinate medical and personal actions informed by genomic results.¹⁰ 

There is a long road ahead of us to integrate genomic medicine more widely and equitably into pediatric clinical settings. However, studies like this one underscore the importance of growing an evidence base to inform the development of health care systems that are better equipped to help engage and support families receiving genomic information while attempting to navigate pediatric illness and medical decisions.¹¹  Research that further elucidates the ways both providers and patients may use genomic information together is essential for creating infrastructure and best practices to guide the provision of genomic medicine into pediatric health care.