Clinical genetics 101: When to refer


Pediatric genetics is a clinical specialty focused on the evaluation and management of children with genetic conditions. Genetic conditions can either be inherited from parents or arise from a new genetic change occurring during fetal development. Conditions vary widely and can affect any organ system of the body. Some diagnoses cause minimal impact on a child’s daily life, while others lead to complex medical needs. Given the breadth of genetic diagnoses, deciding when to refer a child to a genetics clinic can be a challenge.

Several resources outline specific reasons to refer patients to medical genetics. A clear guide written by geneticists and counselors from the American College of Medical Genetics organizes indications by patient age. Building on previously published guidelines, we highlight five practical reasons for referral for genetics evaluation.

Abnormal newborn screening test

In the first week of a newborn’s life, the results of his or her state newborn screening test will become available. The American College of Medical Genetics provides decision trees and confirmatory algorithms, known as Newborn Screening ACT sheets, to describe the necessary follow-up care for each abnormal finding. These sheets help pediatricians prioritize findings that should be evaluated urgently from those which need to be managed emergently in a hospital setting. A phone call to a nearby genetics or metabolism specialist can clarify any remaining questions that the pediatrician or family may have about the initial result.

Care from multiple medical specialists 

Many pediatric patients at children’s hospitals have more than one chronic, complex medical condition. Patients who are followed by various medical specialty providers may never have undergone evaluation for a unifying diagnosis. An evaluation by a geneticist can help put the pieces together, both explaining the child’s past medical history as well as potentially offering prognostic or therapeutic guidance for the future. The more unusual the medical complication, the more likely it is to be a component of a syndrome (e.g., craniosynostosis versus asthma).

Facial differences 

Some children who share the same genetic diagnosis look alike. Importantly, however, conditions that cause a recognizable facial appearance to geneticists may not be obvious at first glance. Features such as deep-set eyes, full lips or pale skin are common in the general population and may not strike a clinician as atypical findings. Asking a parent, “Which parent does she look like to you?” or “Does he look like your other children?” may provide insight into the etiology of the patient’s appearance. Asking to see photographs of other family members can also help a clinician assess for similarities and differences between patients and their relatives.

Because some genetic disorders are familial, the presence of these unique features in a parent should be followed by a review of his or her medical and developmental history to determine if there is overlap with the patient that would imply a diagnosis in parent and child.

Autism spectrum disorders

Approximately 15-to-20 percent of children with autism spectrum disorders have an identifiable underlying genetic diagnosis. Every child with autism should be evaluated with a chromosomal microarray and fragile X testing (in boys) or Rett syndrome testing (in girls). A primary care physician can order these tests if they feel comfortable doing so, then refer to a genetics clinic for help interpreting the results.

Prior visit to genetics, with inconclusive results 

Patients who visited a genetics clinic in the past and did not receive a conclusive diagnosis should be encouraged to return. The identification of new genetic disorders and recent advances in testing may provide answers for families who were told previously that an underlying diagnosis could not be identified.

In the past, making a referral to genetics gave some pediatricians pause, as they wondered whether the consultation would be of benefit. But genetic information has a growing impact on disease surveillance and therapy. Furthermore, just the knowledge of an underlying diagnosis has been shown to improve parental quality of life. Local geneticists and genetic counselors can help answer families’ and providers’ questions to determine the appropriateness and utility of a referral to genetics.

Learn more about the Division of Genetics and Genomics and how to refer a patient.

About our experts:



Nina Gold, MD, is a fourth-year resident in the Boston Children’s combined residency in pediatrics and medical genetics.




Amy Roberts, MD, is director of Boston Children’s Cardiovascular Genetics Research Program and assistant professor of Pediatrics, Harvard Medical School.