The Chromosome 18 Clinical Resource Center.

Jannine D Cody,Annice Hill,Patricia Heard,David Rupert,Bridgette Soileau,Daniel E Hale,Courtney Sebold,Minire Hasi‐Zogaj

doi:10.1002/mgg3.385

Abstract

BackgroundThe Chromosome 18 Clinical Research Center has created a pediatrician‐friendly virtual resource center for managing patients with chromosome 18 abnormalities. To date, children with rare chromosome abnormalities have been cared for either symptomatically or palliatively as a reaction to the presenting medical problems. As we enter an era of genomic‐informed medicine, we can provide children, even those with individually unique chromosome abnormalities, with proactive medical care and management based on the most contemporary data on their specific genomic change. It is problematic for practicing physicians to obtain and use the emerging data on specific genes because this information is derived from diverse sources (e.g., animal studies, case reports, in vitro explorations) and is often published in sources that are not easily accessible in the clinical setting.MethodsThe Chromosome 18 Clinical Resource Center remedies this challenging problem by curating and synthesizing the data with clinical implications. The data are collected from our database of over 26 years of natural history and medical data from over 650 individuals with chromosome 18 abnormalities.ResultsThe resulting management guides and video presentations are a first edition of this collated data specifically oriented to guide clinicians toward the optimization of care for each child.ConclusionThe chromosome 18 data and guides also serve as models for an approach to the management of any individual with a rare chromosome abnormality of which there are over 1,300 born every year in the US alone.

Highlights

The birth prevalence of all chromosome abnormalities is one in 228 and those with unique chromosome imbalances account for about 17% of the total or one of every 1356 births (Wellesley et al, 2012)
| 417 of these chromosome changes will be rare and more will be individually unique. Once known, those changes will provide clues to help optimize clinical care. This is our goal as it pertains to the chromosome 18 deletions and duplications and the rationale for developing rapidly accessible, dynamically collated treatment guides based on molecular-level data
The data used to create these Management Guides are from the participants at the Chromosome 18 Clinical Research Center and are based on in-person assessments, medical and educational record review, and developmental survey data from 116 people with 18p, 343 people with 18q, 39 with Ring 18, and 70 with Tetrasomy 18p (Carter et al, 2015; Cody et al, 2015; Hasi-Zogaj et al, 2015; O’Donnell et al, 2015)

Summary

Introduction

The birth prevalence of all chromosome abnormalities is one in 228 and those with unique chromosome imbalances account for about 17% of the total or one of every 1356 births (accounting for about 2900/year in the US) (Wellesley et al, 2012). This is our goal as it pertains to the chromosome 18 deletions and duplications and the rationale for developing rapidly accessible, dynamically collated treatment guides based on molecular-level data. This virtual resource center includes medical management guides for the chromosome 18 abnormalities (18q-, 18p-, Ring 18, and Tetrasomy18p).

Objectives

Results

Conclusion