The American College of Medical Genetics and Genomics (ACMG) is a professional organization for genetics providers. The ACMG establishes standards of care and laboratory policies. ACMG resources that may be useful for determining when to refer patients to genetics specialists include:
- ACMG ACT Sheets and Algorithms, which list guidelines for providers regarding positive newborn screening results, as well as specific scenarios in carrier screening, diagnostic testing, family history, secondary findings, and transitioning pediatric patients to adult healthcare.
https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508 - The ACMG Find a Genetics Clinic Tool allows users to search for genetics clinics across the United States.
https://clinics.acmg.net/
VIDEO on Your Genetics Appointment https://youtu.be/z7-Yo-QsTPk When you or your doctors decide that a genetics appointment may be useful for your family, you may have questions about what will happen at the appointment and how going to the appointment could help your family. In this video, several families from our region talk about their experiences with genetics appointments and why they are glad they went to the appointment. You’ll also hear from some of the genetics providers from the region about what they hope that families gain from coming to their genetics visits.
CDC’s Learn the Signs. Act Early. (LTSAE) program has collaborated with the American Academy of Pediatrics (AAP) to develop two new free resources – a Family Friendly Referral Guide and a Clinician Guide to support developmental surveillance. The Family Friendly Referral Guide is a fillable PDF that focuses on supporting families and caregivers whose child has a developmental concern and illustrates the importance of following through with developmental referrals. Pediatric practices can customize this guide with information about local referral resources and use the guide to support families and caregivers in understanding what to do if a developmental concern has been identified. The Clinician Guide highlights the developmental surveillance component of identifying strengths, risks, and protective factors. Only 30% of families/caregivers with children under 5 years report being asked by a health care provider if they had any concerns about their child’s learning, development, or behavior according to data from the 2016 National Survey of Children’s Health. This resource will help pediatricians recognize the value of established patient relationships before, during and after the development process. For more resources, visit AAP’s Developmental Surveillance and Screening page.
Genetics Home Reference on MedLine Plus is a health information resource with information about more than 1,300 genetic conditions, over 1,400 genes, chromosomes, and mitochondrial DNA. It is a useful resource for both providers and patients.
https://medlineplus.gov/genetics/
GeneReviews is a database of genetic conditions, with each chapter written by experts in that particular condition and peer reviewed. There are currently 789 chapters, which are published online and can be searched by keyword.
https://www.ncbi.nlm.nih.gov/books/NBK1116/
NCC Resource Repository (ReRe) is a public access database containing resources for patients, genetics providers and other healthcare providers, public health workers, educators, policymakers, and insurers. The resources were created by the National Coordinating Center, the Regional Genetics Networks, the National Genetics Education and Family Support Center, and other partners. It is searchable by topic, intended audience, and by keyword search.
https://nccrcg.org/resources/
The American Academy of Family Physicians’ When to Suspect a Genetic Syndrome is a guide for family physicians, indicating features that suggest a genetic syndrome and should prompt a referral to a genetics specialist.
Approach to Genetic Diagnosis in Developmental Delay from the Mountain States RGN
The American Academy of Pediatrics (AAP) and the American Academy of Neurology (AAN) both provide resources on their websites linked below, to help guide primary care clinicians through the testing and diagnostic work-up for a child with developmental delays.
American Academy of Pediatrics (AAP)
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
American Academy of Neurology (AAN)
Genetic and Metabolic Testing for children with Global Development Delay