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HDI Shares Importance of Giving Updated Information With Genetic Diagnoses

Published: July 18, 2016

When parents first hear the news that their child has a genetic condition, they want support and accurate and up-to-date information right away. They fundamentally want to know what life is like for people living with those conditions. However, sometimes they may receive outdated information or resources that leave them frustrated and confused. Parents may also receive a list of medical conditions associated with a condition without information about life outcomes and social supports.

A recent article in Pediatrics in Review, “Beyond the Genetic Diagnosis: Providing Parents What They Want to Know,” by Dr. Robert Saul (Children’s Hospital of Greenville Health System) and Stephanie Meredith (National Center for Prenatal and Postnatal Resources at the University of Kentucky’s Human Development Institute) talks about the importance of staying up-to-date about these outcomes for different conditions and also lists accurate, up-to-date, and medically reviewed resources that clinicians and parents can use at the moment of diagnosis.

This article further provides tables listing the common myths vs. realities associated with different conditions and the evolution of outcomes for people with Down syndrome from 1970 to 2016.

“When parents receive a diagnosis either prenatally or postnatally, they want accurate, up-to-date, and balanced information right away,” co-author Meredith said. “That moment can be overwhelming and isolating, so they want to know as soon as possible what life is like for families who have a child with that condition. Sometimes that can be challenging for clinicians because the outcomes for these conditions are constantly changing thanks to research, support services, education services, and social inclusion.

“If you look at Down syndrome over the past 45 years, the change is quite significant. Toward that end, we’ve tried to put together a list of medically reviewed, balanced, and accurate resources about the different conditions to help clinicians know where to turn for helpful patient information.”

“When families receive accurate, up-to-date and balanced information about a new genetic diagnosis, they can make the transition to their new lives more smoothly and positively,” Saul said. “It is imperative that primary care practitioners assist in that process. As a pediatrician and medical geneticist in practice for over 37 years, I have seen these dramatic changes and the need for the information to families to be continually updated. Too often, we rely on the information that we learned during our training, giving an inaccurate picture of the current situation and potential outcomes.”

“As the mother of a 16-year-old with Down syndrome, I was incredibly fortunate after my son was born to receive wonderful information right away from the staff at the hospital,” Meredith said. “Their support helped me know where to find services and set my expectations for what my son could accomplish. Unfortunately, I later learned that some families don’t get that same kind of information and support, and we want to make sure all families receive the lifeline they need during that critical moment.”

The genetic conditions covered in the article include Down syndrome, Trisomy 13/18, cystic fibrosis, Turner syndrome, Klinefelter syndrome, XXYY, spina bifida, Jacobsen syndrome, Williams syndrome, Fragile X syndrome, Cri-du-Chat syndrome, Wolf-Hirschhorn syndrome, and 22q deletion syndrome. CME credit is also available for this article.

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