The rationale for genetic counseling (Murphy EA. J Pediatr 1968;72:121-30)
Biesecker, B. B., & Biesecker, L. G. (2018). 50 years ago in the Journal of Pediatrics: The rationale for genetic counseling (Murphy EA. J Pediatr 1968;72:121-30). Journal of Pediatrics, 193, 33. https://doi.org/10.1016/j.jpeds.2017.12.037
Murphy presented a methodologic approach to assessing genetic risk and, 50 years hence, his sources are dated but not all are obsolete. Many of these risk calculations have been replaced by direct molecular genetic testing. What we found striking was Murphy's choice to report on genetic risk calculations in a paper on genetic counseling at the exclusion of the clinical and psychological implications for patients. Practicing pediatricians must have wondered about the usefulness and relevance of the math in Murphy's paper when considering how they should best support the concerned parents of their patients.
Rather than the theoretical foundations of genetics and mathematics of risk calculations, it is the context for the use of genetic testing and risk calculations that is of greater relevance to practicing pediatricians. The pediatrician is on the front line for queries from parents about how their child is developing or the implications of birth defects. Although the standard has been to consult a neurodevelopmental specialist or a pediatric geneticist, increasingly pediatricians will be incorporating the use of genomics directly into their practice. Risk calculation remains important to estimating the relative likelihood of a positive test result. Yet it is increasingly more straightforward to assess risk directly from sequencing data rather than using the principles outlined 50 years ago. Some scientists predict that all children may have their genome sequenced and the risks derived directly from the findings.
Genomics has reached a critical transition where the technology is entering mainstream medicine. The transition will be challenging because genome sequencing results are difficult to interpret and much of it is uncertain. One aspect that will stay constant is that it will be best for parents to work with their pediatrician with whom they have a long-standing relationship and will provide ongoing care to their affected child.
The pediatrician will become better equipped in the years to come to answer questions such as, “Is there something wrong with my son?”, “How can I take care of a child with a syndrome?”, “How will this affect my family?”, and so forth. Parents seek literal and existential answers, and having the expertise to address these essential and profound questions are at the core of good pediatric care for a child with a genetic disorder. The skills to address them align well with the pediatrician's training in counseling and family support, more so than calculations of risk from genetic theory.