Products from our Supplemental Projects

Genetic Workforce Project

Metabolic Workforce Phase II Final Report - May 2012

The findings from this survey provide broad reinforcement to the themes expressed in the first phase interview project conducted in the Northeast region. Overall, providers report that non-care related time spent with patients and on education and administrative tasks is substantial and challenging. Mentioned most frequently (64% of providers) was time spent with insurers for approvals and lacking reimbursements for medical foods and formulas.


Phase One Report - April 2011

This report reflects the findings of a study conducting in 2009-2010 on the genetic providers in the northeast providing services to patients who screen positive for a metabolic condition.  The study examined both the newborn screening process and then examined the care process for a most-seen genetic patient through the first year of life. 


Here we summarize the findings of the study and offer insights into what we believe are the critical touch points affecting the current and future genetic workforce in the states studied both currently and in the near future. 

Legal Analysis Project - Michelle Winchester, October 2010

Education & Outreach Products

Genetics Education Materials for School Success (GEMSS)

gemss homepage imageVisit the website: We are continually improving this website, so we invite feedback! 

GEMSS was created for teachers, therapists, counselors, parents and schools so they can best support students with genetic conditions.  This new website is unique; it houses a library of useful tools and tips for educational and classroom support, dietary needs, field trips, sports and much more, all in one place.

The aim of GEMSS is to make school a successful and positive experience for all students who have genetic conditions. As of January 2015, the website includes information on supporting students with:

  • 22q Deletion
  • Achondroplasia
  • Aicardi Syndrome
  • Angelman Syndrome
  • Autism Spectrum Disorder
  • CHARGE Syndrome
  • Congenital Heart Defects
  • Cornelia de Lange Syndrome
  • Cystic Fibrosis
  • Down Syndrome
  • Eherls-Danlos Syndrome
  • Fetal Alcohol Spectrum Disorders
  • Fragile X
  • Galactosemia
  • Kabuki Syndrome
  • Klinefelter Syndrome
  • Marfan Syndrome
  • MCAD
  • MECP2 Duplication
  • Neurofibromatosis 1 
  • Neuromuscular Disorders
  • Noonan Syndrome
  • PKU
  • Prader-Willi Syndrome 
  • Rett / Rett varian Syndrome
  • Rubinstein-Taybi Syndrome
  • Russell-Silver Syndrome
  • Sickle Cell Disease
  • Smith-Magenis Syndrome
  • Sotos
  • Tuberous Sclerosis
  • Turner Syndrome
  • Urea Cycle Disorders
  • Williams Syndrome
  • Undiagnosed/Other

More conditions will be added in the future. Before developing the website, the work group conducted focus groups in elementary schools across New England to vet the project. Read the full report.

GEMSS Learning Module

GEMSS Learning Module - Training Materials for Your Higher Education Class

The Learning Module for Genetics Education Materials for School Success (GEMSS) was developed to use in education and other departments at the community college, college, or university level.  Our hope is to reach teachers and others before they graduate. It is suitable for other learning environments as well. Like all of our materials, these are free resources. 

The Learning Module has suggested activities - choose one or all:

  • Pre-work for students
  • 2 minute video
  • In or out-of-class assignments (works well online)
  • Slide presentation for whole group activity 
  • Independent or small group activity 
  • Discussion questions to encourage critical thinking about inclusion for children who have genetic conditions
"Finding the GEMSS in Your School", Exceptional Parent Magazine

"Finding the GEMSS in Your School", written by Ann Donaghue Dillon, was published in the March 2014 issue of Exceptional Parent magazine. This was a collaborative effort with the Genetic Alliance, a regular contributor to the magazine. 

If you are like me, I always had my eyes and ears open to learn about any information to help my daughter receive a good education! Having a genetic condition that was both rare and new for her school, she made all of us on the team try our best and then hope! I wish GEMSS was available when she was starting out in school! It would have been a great source of information that we could have used as a foundation, and then branched out as needed! – Ann Donoghue Dillon

Newborn Screening Brochures in Multiple Languages

The following brochures developed by New England Public Health Genetics Education Collaborative (NEPHGEC), give the reader an overview of the newborn screening process and the genetic conditions for which the panel screens, available in multiple languages. Click on the links below to download the PDFs.

NE Genetics Resources Directory

The New England Genetics Resources Directory lists service information in New England. Key sections are translated into Spanish for online posting.

Understanding Genetics Guide for Patients and Professionals

Understanding Genetics: Guide for Patients and Professionals was published for New England in 2007.

Health Care Access & Finance Products

Fact sheet: Promoting and Improving the Health and Well-Being of People with Inherited Conditions

Promoting and Improving the Health and Well-Being of People with Inherited Conditions is a fact sheet summarizing results of the second survey conducted by the Health Care Access & Finance work group in 2015-2016. Like the first survey (2013-2014), it was sent to families in New  England who have children with genetic conditions. The goal was to gain a better understanding of issues related to health care access and coverage/reimbursement for this population. 

Author: Ashley Hamill, NH LEND Trainee

Policy Brief: New England Children with Genetic Disorders and Health Reform / Information and Recommendations for State Policymakers.

New England Children with Genetic Disorders and Health Reform / Information and Recommendations for State Policymakers is a policy brief written by Meg Comeau and the Health Care Access & Finance Work Group in 2014. It incororates information gleaned from the group's initial survey of New England families of children with genetic conditions. 

Webinar: Highlights of the Policy Brief - Meg Comeau

On September 2, 2014, Meg Comeau presented a webinar in which she shared highlights of the policy briefNew England Children with Genetic Disorders and Health Reform / Information and Recommendations for State Policymakers. 


Medical Home Products

Webinar Series: It's All About Teamwork: Incorporating Genetics and Family History into the work of the Patient Centered Medical Home (PCMH)

Webinars will be archived here and below:

“Why Medical Home and Care Coordination are Important for Children”
May 28, 2015; 12 noon to 1 pm (EDT); Jill Rinehart, MD, Pediatrician from VT; Jeanne McAllister, BSN, MS, MHA, Medical Home Expert
Click here for presentation slides and recording.

"How to Achieve a Shared Plan of Care for Kids with Primary Care Providers, Families, and Specialists”
June 4, 2015; 12 noon to 1 pm (EDT)Dr. Jill Rinehart and Jeanne McAllister
Click here for presentation slides and recording.

“Obtaining and Documenting a Pediatric Family History – Understanding Why it is Important, Identifying Red Flags, and Capturing the Information in the Electronic Medical Record”
July 16, 2015; 12 noon to 1 pm (EDT): Craig Donnelly, MD, Pediatric Psychiatrist from NH; Leah Burke, MD, Geneticist from VT
Click here for presentation slides and recording.

“Sustaining the Momentum / Incorporating Genetics in the Management of Children in the Primary Care Office”
September 17, 2015; 12 noon to 1 pm (EDT); Wendy Smith, MD and Rosemarie Smith, MD, Geneticists from ME

"Balancing Strengths & Needs: Family Centered Conversations" 
May 26, 2016, noon - 1 pm (EDT); Jill Rinehart, MD; Barbara Frankowski, MD; Tara Townsend, Family/Advocate
Click here for presentation slides and recording.

Family Care Plan

Family Care Plan

In 2009-2010 the Medical Home group piloted a communication tool designed to improve shared care between families, primary physicians, and specialists. 

The Family Care Plan was developed as a fillable PDF. 

The Medical Home: Building a New Brand for Primary Care

This power point presentation was presented by Dr. Carl Cooley at the Medical Home Kick-off meeting in June, 2008.

Parents' Role in Specialty Referrals: Views from Both Sides of the Exam Table

This abstract was accepted for a presentation at the Pediatric Academic Society in Denver in May, 2011. The work summarizes the 2009-2010 Innovative Project to develop and pilot a practical care plan to be used by parents, PCP, and specialty physicians to improve communication and care.

Quality Improvement Products

Transition Products

Transition Plan for Metabolism Clinics - Clinicians Policy & Explanation for Families

Developed by Susan Waisbren, PhD, at Boston Children's Hospital, 2015

Transition to Adult Healthcare - Clinician's Policy

This policy is for staff at Metabolism Clinics in the New England Region who are caring for patients aged 12-17 with metabolic disorders. The policy is structured around best practices in enabling patients to transition successfully to adult health care. It includes information about guardianship, healthcare proxies, parent and patient visiting policies, inpatient visits, medical records, and our Transition Toolkit for teens, among other resources.

Explanation for Young Adults, Adolescents, and Families

This introduction for adolescents, young adults, and families explains the steps to take as teens and young adults with metabolic disorders transition to caring for their own health. It includes information about independent health care visits, guardianship, healthcare proxies, medical records confidentiality, and our Transition Toolkit.

Moving on with Mito

"Moving on with Mito - A Guide for Teens and Young Adults Living with Mitochondrial Disorders" 

This exceptional educational brochure was developed in 2014 by Susan Waisbren, PhD, at Children's Hospital Boston, and Robert Auffrey, Health Communications graduate student at Emerson College, Boston.  Topics include:

  • Basics about mitochondrial disorders
  • Achieving Life Goals
  • Personal Stories
  • The Adult Health Care System
  • About Transition & the Transition Toolkit
  • Resources
Face Forward Summer Conference for Youth

Face Forward summer conferences are sponsored by Next Step, Inc., in Cambridge, MA, in collaboration with Dr. Susan Waisbren, NEGC Transition Work Group Chair / Children's Hospital Boston.  

Transition Toolkit

This toolkit was developed to help teenagers and young adults prepare for transitioning to the adult health care system.

The links below go to the New England Consortium of Metabolic Programs website at Children's Hospital Boston, where the toolkit was developed with Innovative Project award funding from the NEGC.

Metabolic Condition Basics

Part of the Transition Toolkit described above, Metabolic Basics are 1 page fact sheets designed to help individuals understand their inherited metabolic conditions, and to explain them to families, schools, friends, and care providers. Each includes concise user-friendly sections on medical issues for teens and young adults, and on fertility and pregnancy. 

Metabolic Basics are available on the New England Consortium of Metabolic Programs website (see links below), under Transition Toolkit. Of all the elements in the Transition Toolkit, the Metabolic Basics have reportedly been used the most!  

Metabolic Condition Basics – Arginase Deficiency

Metabolic Condition Basics – Argininosuccinic Acidemia

Metabolic Condition Basics – Biotinidase Deficiency

Metabolic Condition Basics – Citrin Deficiency

Metabolic Condition Basics – Citrullinemia I

Metabolic Condition Basics – CPS I Deficiency

Metabolic Condition Basics - Mitochondrial Disorders 

Metabolic Condition Basics – Galactosemia

Metabolic Condition Basics – Homocystinuria

Metabolic Condition Basics – NAGS Deficiency

Metabolic Condition Basics – Ornithine Transcarbamylase (OTC) Deficiency

Metabolic Condition Basics – Phenylketonuria (PKU)

Galactosemia: Educators' Resources

These resources, developed at Children's Boston, are  for teachers working with students who have galactosemia:

  •  Understanding Galactosemia
    • an introductory guide for educators, featuring a basic description of galactosemia, suggested teaching strategies, classroom managment ideas, and additional resources
  •  Galactosemia - Resources for Educators
    • a detailed guide for educators with in-depth information about galactosemia, about special challenges for students with the condition, and featuring information about therapies, classroom environment, lesson planning, teaching technologies, and other resources
Moving Forward: Your Guide to Galactosemia and POI

Moving Forward: Your Guide to Galactosemia and POI  is a comprehensive five-part guide, produced at Children’s Hospital Boston.

It contains sections for teens and women who have galactosemia and POI, and for their family members. The guide explains the symptoms and underlying causes in easy-to-understand terms, and outlines ways of getting the care and support you need.

It also provides a list of resources, and a glossary of medical terms.

A Guide for Prenatal Educators

A Guide for Prenatal Educators was developed at Children's Boston and contains information and resources based on recommendations by the American Academy of Pediatrics.  Included information and resources for parents, as well as information about each metabolic disorder including incidence rate, a brief definition, and recommmended treatment options.

PKU Toolkit

The PKU Toolkit, developed at Children's Boston, is designed to be a personal guide for teens and young adults with PKU, including comprehensive information about nutrition, diet, treatment, and lifestyle issues. It provides information, resources, checklists, and quizzes to help you better manage your PKU. 

Also included is information about new, more convenient and tasty options in PKU formula and low-protein foods. Reading this toolkit can also be useful for family, friends and significant others of adults with PKU.