The Laboratory‐Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

Abstract

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium’s database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

“…DECIPHER [63] and ISCA [64] contain CNVs that fully duplicate C16orf72 ; relevant phenotypes from overlapping DECIPHER cases 251553 and 259192 include “Defect in the atrial septum” and “Abnormality of the heart” in ISCA case nssv578696 (S2 Table). Since CNV #33 is smaller than the CNVs in DECIPHER (254 Kb vs. >11 Mb), our data narrow the critical region for genes effecting cardiac development in this region.…”

A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome‐Wide Testing in Pediatric Clinical Practice

“…There is an increasing need to integrate the clinical and the genetic information. However, most healthcare providers have inadequate understanding of genetics (Feero & Green, 2011; Greendale & Pyeritz, 2001; Kemper et al, 2010; Trinidad et al, 2008) and most laboratory scientists have little exposure to clinical phenomena (Wain et al, 2012). Genetic counselors can play a crucial role due to their familiarity with the genetic disease phenotypes and their expertise in interpreting genetic test results.…”

“…Genetic counselors are ideally situated to liaise with families, non-genetics healthcare providers and laboratories, and to integrate the different types of information into a coherent picture. Genetic counselors have a role in correlating genetic and phenotypic findings, and documenting the variability of clinical presentation in affected individuals, and have been called upon to contribute detailed and accurate phenotypic information to databases that aid in the interpretation of CMA results (Wain et al, 2012). In these ways, genetic counselors can help to bridge the gap between phenotypic and genotypic information, and to increase diagnostic and prognostic accuracy.…”

The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

“…Laboratory genetic counselors' relationships with clients and laboratory staff allow them to identify relevant stakeholders and assess how various actions would impact their obligations to each stakeholder, a key skill that is shared with genetic counselors in the clinical setting (Goodenberger et al 2015;Wain et al 2012). For the clinical genetic counselor, relevant stakeholders most often include the primary patient, relatives and/ or spouse of the patient, and other clinical colleagues involved in the case.…”