Presentations

Presentations

Poster Presentations

Below is a list of the most recent Poster Presentations by members of the New England Genetics Collaborative.

Preliminary findings of a regional approach to critical congenital heart disease newborn screening implementation. 
Preseneted at American Public Health Association Annual Meeting, November 16-20, 2014; New Orleans, LA., by McClain MR, Murray A.

Metabolic and Genetic Disease Specialists’ Communication and Co-management with Primary Care Physicians. 
Presented at the American College of Medical Genetics Annual Meeting, March 24-29, 2014. Nashville, TN., by Cooley C.

Sickle cell community based collaborative research: the roles and experiences of sickle cell advocacy organizations.
Presented at the American College of Medical Genetics Annual Meeting, March 19-23, 2013; Phoenix, AZ., by Pertillar V, Williams-Edwards D.

Quality improvement in the clinical genetic evaluation of patients referred for global developmental delays/intellectual disabilities or autism. Presented at the American College of Medical Genetics Annual Meeting on March 19-23, 2013 in Phoenix, AZ
by Moeschler JB, McClain MR, Burke LW, Dinulos MB, Smith R, Smith W, Miller P.

Genetics Education Materials for School Success(GEMSS). Presented at the 13th International Williams Syndrome Conference, July 2012 in Boston, MA.
by Giummo C.

Caring for patients with metabolic disorders from positive newborn screen to year 1: provider workload, workflow, and issues for the medical genetics workforce. Presented at the Association of American Medical Colleges Physician Workforce Research Conference, May 3-4 2012, in Washington, DC
by McGrath RJ, Stransky M, Benkendorf J.

The New England metabolic centers program to improve care for patients with inherited metabolic disorders. Presented at Society for Inherited Metabolic Disorders Annual Meeting, March 31 – April 3, 2012 in Charlotte, NC
by Smith W, Martin M, Greenstein RM, Korson M, Levy H, Waisbren SE, Moeschler JB, Cooley WC, McAllister JW, Antal P, McClain MR.

Genetics education materials for school success: a guide for the classroom for children with genetic conditions. Presented at the American College of Medical Genetics Annual Meeting, March 27-31, 2012, in Charlotte, NC
by Burke LW, Burke B, Dillon AD, Giummo C, Larson F, Lavochkin M, Mulcahy E, Smith W, Tutko H, Williams-Edwards D.

New England birth defects consortium: 6-state folic acid/multivitamin distribution project. Presented at the National Birth Defects Prevention Network Annual Meeting, February 27-29, 2012 in Arlington, VA. by Miller S, Haberman D, Wall T, Mason C, Tu S, Brozicevic P, Davis K, Davis J, Viner-Brown S, Arias W, Higgins C, Anderka M.

Factors that can Influence the Immunoreactive Trypsinogen (IRT) Concentrations on Dried Blood Spot Samples. Presented at The 2011 Newborn Screening and Genetic Testing Symposium, San Diego CA, November 2011
by Dr. Roger Eaton.

Congenital Hypothyroidism in Multiple Births. Presented at The 2011 Newborn Screening and Genetic Testing Symposium in San Diego CA, November 2011
by Dr. Inderneel Sahai.

Outcomes of clinical genetic evaluation of 186 patients referred for intellectual disability or global developmental delays of unknown cause. Presented at the American Society of Human Genetics Annual Meeting, October 11-15, 2011 in Montreal, Canada
by Moeschler JB, McClain MR, Burke LW, Dinulos MB, Smith R, Smith W, Miller P.

Parents’ role in specialty referrals: views from both sides of the exam table. Presented at the Pediatric Academic Societies Annual Meeting, April 28-May 1, 2011 in Denver, CO
by Fischer SH, Cooley WC, Mazor KM, Dworetzky B, Stille CJ.

Notes from the front lines: psychosocial follow-up of newborn screening. Presented at the ELSI Congress: Exploring the ELSI Universe, April 12-14, 2011 in Chapel Hill, NC
by Fanos JH.

The adult galactosemic phenotype. Presented at the Society for Inherited Metabolic Disorders Annual Meeting, Feb 27-March 2, 2011 in Pacific Grove, CA
by Waisbren S.

Oral Presentations

GEMSS - Genetic Education Materials for School Success: Parent Voices. Presented at the Association of Maternal & Child Health Programs Annual Conference, January 26, 2015, Washington, DC, by Ann Donaghue Dillon.

The Affordable Care Act and Access to Genetic Services: Opportunities and Challenges. Presented at the New England Regional Genetics Group annual conference on December 4, 2014, by Meg Comeau.

QI Developemental Delay Registry: What it takes to secure a diagnosis. Presented at the New England Regional  Genetics Group annual conference on December r, 2014, by John Moeschler.

I am more than a diagnosis!" Impact of Personal Identity on Health Care Transitions for Young Adults with Special Health Care Needs. Presented through the Got Transition Webinar Series, Webinar #6 in November 2012 by Susan Waisbren, Mallory Cyr.

Transition to Independent Living. Presented through the Got Transition Webinar Series at the Live from Face Forward Summer Conference for Youth, Ashland, MA in July 2012 by Susan Waisbren, Mallory Cyr.

Exploring the Role of the School Nurse as a Facilitator of Health Care Transition. Presented at the Maine Nurses’ Association Summer Institute in July 2012 by Carol Orton.

Keynote to 2012 Galactosemia Foundation Conference; topic included Transition. Presented at Dallas, TX in July 2012 by Susan Waisbren.

Experiences with IRT analysis in New England. Presented at the Joint APHL and HRSA Conference on IRT as a Biomarker for Cystic Fibrosis: Technical Issues and Challenges for Newborn Screening in Bethesda, MD in May 2011 by Roger Eaton

Laboratory aspects of IRT screening: Quality assurance activities. Presented at the Joint APHL and HRSA conference on IRT as a Biomarker for Cystic Fibrosis: Technical Issues and Challenges for Newborn Screening in Bethesda, MD in May 2011 by Roger Eaton

Region I collaborative laboratory quality control project: Multicenter validation of algorithms to improve communications positive newborn screening results to the medical home. Presented at the 24th Meeting of the SACHDNC, Laboratory Standards and Procedures Subcommittee in Washington, DC in May 2011by Dr. Inderneel Sahai.

The Long and Short of Newborn Screening for LCHAD: The New England Experience.Presented at The 2011 Newborn Screening and Genetic Testing Symposium in San Diego CA in November 2011 by Dr. Inderneel Sahai.

Multicenter validation of algorithms to improve communications of positive NBS results to the medical home. Presented at The 2011 Newborn Screening and Genetic Testing Symposium in San Diego, CA by Dr. Inderneel Sahai .

Quality Improvement.Panel presentations at The 2011 Newborn Screening and Genetic Testing Symposium in San Diego CA in November 2011with Dr. Roger Eaton asPanel Leader.

Post-Analytic Molecular Challenges: Algorithm development, Clinical interpretation, Reporting Data and Reporting Risk. Presented at the CDC Molecular Training Workshop in Atlanta, GA in May 2012 by Dr. Anne Comeau.

Long-Term outcomes and Management across the Lifespan. Presented at the NIH conference: PKU Scientific Review Conference: State of the Science and Future Research Needs in Feb 2012 in Bethesda, MD by Susan Waisbren.

Long term outcomes in newborn screening. Presented at the Pediatric Academic Society on May 1, 2012 in Boston, MA by Susan Waisbren as a member of the panel.

Region 1 Quality Control Project: Multicenter Validation of Algorithms to Improve Communications of Positive Newborn Screening Results to the Medical Home. Presented by Sahai I, Caggana M, Morrissey M, Rodriguez D, Baker, M, Hoffman G, Sommers P, Manning A, Eaton R. Presented to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, Laboratory Standards and Procedures Subcommittee Meeting in May 2011 in Washington, D.C.

Notes from the Front Lines: Psychosocial Follow-up of Newborn Screening. Presented at the 2011 ELSI Congress: Exploring the ELSI Universe on April 12-14, at the University of North Carolina in Chapel Hill, NC by Joanna H. Fanos.