Kelly E. Ormond

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The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been(More)
Biobanks have been developed as a tool to better understand the genetic basis of disease by linking DNA samples to corresponding medical information. The broad scope of such projects presents a challenge to informed consent and participant understanding. To address this, 200 telephone interviews were conducted with participants in the NUgene Project,(More)
Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine (E A Ashley MRCP, M T Wheeler MD), Department of Medicine (Prof R B Altman MD), Department of Bioengineering (Prof R B Altman), Division of Medical Genetics (Prof L Hudgins MD), Department of Pediatrics (A J Butte MD), and Department of Genetics (T E Klein PhD, K E Ormond MSc,(More)
Genetic counselors have a long-standing history of working on the clinical forefront of implementing new genetic technology. Genomic sequencing is no exception. The rapid advancement of genomic sequencing technologies, including but not limited to next generation sequencing approaches, across all subspecialties of genetic counseling mandates attention to(More)
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed(More)
CONTEXT Although a large number of women of reproductive age use new selective serotonin reuptake inhibitors (SSRIs) and half of all pregnancies are unplanned, no data exist on the safety of these agents for the human fetus. OBJECTIVE To assess fetal safety and risk of fluvoxamine, paroxetine, and sertraline. DESIGN A prospective, multicenter,(More)
IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication. OBJECTIVES To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies; to quantitate inherited disease risk and pharmacogenomic(More)
Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family with history of familial thrombophilia. We demonstrate that the use of the major allele(More)
Telephone counseling can provide a convenient, accessible, and valuable source of information to the general public, health care providers, and other professionals. In the genetic counseling profession, telephone counseling is often associated with teratogen information services. However, genetic counselors routinely utilize the telephone in a number of(More)
There is movement to expand newborn screening (NBS) to include conditions that challenge the traditional public health screening criteria. Little is known about the attitudes of genetic counselors towards expanding NBS and offering predictive genetic tests to children. For our study genetic counselors completed an internet survey posted on the National(More)