Publications by authors named "Jennifer Gannon"

5 Publications

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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Genet Med 2020 06 23;22(6):986-1004. Epub 2020 Mar 23.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Purpose: Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population.

Methods: We undertook an SER to identify primary literature from January 2007 to March 2019 describing health, clinical, reproductive, and psychosocial outcomes resulting from ES/GS in patients with CA/DD/ID. A narrative synthesis of results was performed.

Results: We retrieved 2654 publications for full-text review from 7178 articles. Only 167 articles met our inclusion criteria, and these were primarily case reports or small case series of fewer than 20 patients. The most frequently reported outcomes from ES/GS were changes to clinical management or reproductive decision-making. Two studies reported on the reduction of mortality or morbidity or impact on quality of life following ES/GS.

Conclusion: There is evidence that ES/GS for patients with CA/DD/ID informs clinical and reproductive decision-making, which could lead to improved outcomes for patients and their family members. Further research is needed to generate evidence regarding health outcomes to inform robust guidelines regarding ES/GS in the care of patients with CA/DD/ID.
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http://dx.doi.org/10.1038/s41436-020-0771-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222126PMC
June 2020

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 03 16;22(3):453-461. Epub 2019 Nov 16.

Department of Pathology, University of Utah, Salt Lake City, UT, USA.

Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene-disease association) and technical completeness (e.g., depth of coverage), standards that address technical and clinical aspects of gene panels are needed. This document serves as a technical standard for laboratories designing, offering, and reporting gene panel testing. Although these principles can apply to multiple indications for genetic testing, the primary focus is on diagnostic gene panels (as opposed to carrier screening or predictive testing) with emphasis on technical considerations for the specific genes being tested. This technical standard specifically addresses the impact of gene panel content on clinical sensitivity, specificity, and validity-in the context of gene evidence for contribution to and strength of evidence for gene-disease association-as well as technical considerations such as sequencing limitations, presence of pseudogenes/gene families, mosaicism, transcript choice, detection of copy-number variants, reporting, and disclosure of assay limitations.
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http://dx.doi.org/10.1038/s41436-019-0666-zDOI Listing
March 2020

Use of phenazopyridine for reducing discomfort during embryo transfer.

Fertil Steril 2007 May 18;87(5):1010-4. Epub 2007 Jan 18.

Department of Obstetrics and Gynecology, Women & Infants' Hospital, Brown Medical School, Providence, Rhode Island 02905, USA.

Objective: The embryo transfer is a critical part of in vitro fertilization. When performed under abdominal ultrasound guidance, the embryo transfer procedure requires a full bladder. Patients often state that the discomfort of the distended bladder causes more pain than the actual transfer procedure. Phenazopyridine HCl is a bladder analgesic. The objective of this study was to determine if a single dose of phenazopyridine prior to embryo transfer reduces patient discomfort during that procedure.

Design: Prospective randomized double-blinded clinical trial.

Setting: University-based Reproductive Medicine practice.

Patient(s): Eighty-five reproductive age infertile women undergoing in vitro fertilization.

Intervention(s): Phenazopyridine (200 mg) or placebo taken 1 hour prior to embryo transfer utilizing transabdominal sonography.

Main Outcome Measure(s): Pain as assessed by visual analogue pain scale and physician and nurse assessment of patient discomfort.

Result(s): Study groups were similar in their demographic background. Mean pain score as assessed by a visual analogue pain scale during the procedure was 2.95 +/- 2.4 in the placebo group, and 3.03 +/- 2.6 in the active medication group (NS). There were also no significant differences in the observations of pain assessments.

Conclusion(s): Phenazopyridine used in a single dose prior to embryo transfer does not alleviate patient discomfort.
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http://dx.doi.org/10.1016/j.fertnstert.2006.08.097DOI Listing
May 2007

Protective nutrients and functional foods for the gastrointestinal tract.

Am J Clin Nutr 2002 May;75(5):789-808

Combined Program in Pediatric Gastroenterology and Nutrition, Children's Hospital Boston, Massachusetts General Hospital, and Division of Nutrition, Harvard Medical School, Boston, MA, USA.

Epithelial and other cells of the gastrointestinal mucosa rely on both luminal and bloodstream sources for their nutrition. The term functional food is used to describe nutrients that have an effect on physiologic processes that is separate from their established nutritional function, and some of these nutrients are proposed to promote gastrointestinal mucosal integrity. We review the recent in vitro, animal, and clinical experiments that evaluated the role of several types of gastrointestinal functional foods, including the amino acids glutamine and arginine, the essential micronutrients vitamin A and zinc, and 2 classes of food additives, prebiotics and probiotics. Many of the data from preclinical studies support a strong role for enteral nutrients in gastrointestinal health; in comparison, the data from human studies are limited. In some cases, impressive data from in vitro and animal studies have not been replicated in human trials. Other clinical trials have shown positive health benefits, but some of those studies were plagued by flaws in study design or analysis. The methods available to detect important changes in human gastrointestinal function and structure are still limited, but with the development of more sensitive measures of gastrointestinal function, the effects of specific nutrients may be more easily detected. This may facilitate the development of phase 3 clinical trials designed to more rigorously evaluate the effects of a particular nutrient by focusing on valid and reliable outcome measures. Regulatory changes in the way in which health claims can be made for dietary supplements should also be encouraged.
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http://dx.doi.org/10.1093/ajcn/75.5.789DOI Listing
May 2002