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Background: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can inform prognosis and clinical management. However, genetic testing is not standardized among individuals with CHD. We sought to develop a list of validated CHD genes using established methods and to evaluate the process of returning genetic results to research participants in a large genomic study. Methods: Two-hundred ninety-five candidate CHD genes were evaluated using a ClinGen framework. Sequence and copy number variants involving genes in the CHD gene list were analyzed in Pediatric Cardiac Genomics Consortium participants. Pathogenic/likely pathogenic results were confirmed on a new sample in a clinical laboratory improvement amendments-certified laboratory and disclosed to eligible participants. Adult probands and parents of probands who received results were asked to complete a post-disclosure survey. Results: A total of 99 genes had a strong or definitive clinical validity classification. Diagnostic yields for copy number variants and exome sequencing were 1.8% and 3.8%, respectively. Thirty-one probands completed clinical laboratory improvement amendments-confirmation and received results. Participants who completed postdisclosure surveys reported high personal utility and no decision regret after receiving genetic results. Conclusions: The application of ClinGen criteria to CHD candidate genes yielded a list that can be used to interpret clinical genetic testing for CHD. Applying this gene list to one of the largest research cohorts of CHD participants provides a lower bound for the yield of genetic testing in CHD.

In this paper, we apply the growing body of scholarship on entrepreneurial orientation to understanding organizational performance along social rather than financial metrics. In so doing, we contri...

This paper explores the implications of top management team (TMT) diversity and identity in fostering an organizational environment that promotes social intrapreneurship. We integrate upper echelon...

Economic forces don’t change, but the nature of competition does and has. Business has moved through a series of eras to reach the current one, which has been described as ‘post-industrial’, charac...

In the present manuscript, we develop and extend theory with respect to social intrapreneurship by examining the “how” of intrapreneurial championing. More specifically, we integrate the natural-re...

SWOT analysis is still ubiquitous in business courses, and yet it has been harshly criticized by scholars and is not used by top management consulting firms. It is atheoretical and overly simplisti...

Consultants and other professional service firms compete by bringing their knowledge resources to bear on their customers’ challenging problems. Such knowledge resources can reside in workers and/o...

Social entrepreneurs have a wider interest than traditional commercial firms, given their commitment to social improvement. Just as governments do, they may step in to facilitate research into solu...

Transaction cost economics (Williamson, 1985) has become a widely accepted theory for understanding firm boundary and governance choices in intermediate product market (IPM) transactions. TCE does ...

Uncertainty in production processes has proven to be a useful lens through which to explain the international entry mode choices of large manufacturing firms. This paper adapts that approach to sug...

This paper examines the question of whether and how systemic factors can impact the probability that an entire organizational field will collapse, using Complex Systems Theory. We develop a model for how such a collapse might occur and suggest that increasing levels of embeddedness within the organizational field allow even modest perturbations to bring down the entire system. The model is tested using a mathematical simulation, obtaining results consistent with our assertions.

This paper uses the concepts of organizational fitness and fitness landscapes to examine management challenges that arise from social entrepreneurship efforts. Organizations pursuing social entrepr...