Resources
Medical Justification Templates
Obtain insurance authorization prior to obtaining sample for genetic testing.
Genetic counselors at the Waisman Center created templates of medical justification for over 50 different conditions. They are available for your use. Test lab websites often provide Letters of Medical Necessity as well.
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ACMG ACT Sheets
The ACMG ACT Sheets and their accompanying algorithms are great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision…
Atlas of Human Malformation Syndromes in Diverse Populations
The purpose of this website is to provide a tool that is helpful for the clinician in diagnosing syndromic disorders across varied populations.
Clinical Trials.gov
Clinical Trials is a database of privately and publicly funded clinical trials conducted around the world.
Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals
The Direct-to-Consumer Genetic Testing (DTC-GT) Frequently Asked Questions (FAQ) resource designed for the general clinician who may see patients requesting guidance on DTC-GT. This FAQ is intended to help healthcare professionals understand…
Elements of Morphology: Human Malformation Terminology
Defines uniform and internationally accepted terms to describe the human phenotype for the craniofacies in general, the major components of the face, and the hands and feet.
OMIM® Online Mendelian Inheritance in Man
An online catalog containing information on all known mendelian disorders and over 16,000 genes. Enter clinical phenotypic findings in search fields.
GeneReviews
GeneReviews is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients…
Genetic and Rare Diseases Information Center (GARD)
GARD is a program of the National Center for Advancing Translational Sciences (NCATS) to provide access to current, reliable, and easy to understand information about rare or genetic diseases in English or…
Genetic Testing Registry (GTR)
The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers.
Genetics Policy Hub
Developed by the National Coordinating Center for the Regional Genetics Networks (NCC), the Genetics Policy Hub provides resources related to genetics policy across the U.S. Within the hub, you can find the…
National Organization for Rare Diseases (NORD)
The purpose of NORD Online Physician Guides is to provide a resource for clinicians about specific rare disorders to facilitate the timely diagnosis and treatment of their patients. Family physicians, pediatricians, and…
Unique | Understanding Rare Chromosome and Gene Disorders
Unique provides support, information and networking to families affected by rare chromosome and gene disorders. Patient guides available in English and Spanish.
WI Newborn Screening Program’s Health Professionals Guide
Provides information on conditions included in Wisconsin’s newborn screening panel.
Resources from Professional Organizations
Ask an Expert
Need guidance on how to support a patient with a potential genetic concern? The GSI Initiative’s genetic counselor is here to help.