Evaluation & Testing Decisions Toolkit

Differential Diagnosis

Genetic disease is an important consideration when evaluating a child with many different neurodevelopmental signs and symptoms. The purpose of this tool is to help you consider genetic factors in a differential diagnosis for the common pediatric presentations in neurology practice.

GeneTests
www.genetests.org/ GeneTests is a free medical genetics information resource. It contains: Laboratory Directory: find labs that perform genetic tests of interest. GeneReviews (http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTests): expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. GeneReviews articles also include a list of differential diagnosis conditions. GeneReviews Overviews: address the genetic components of broad categories of disease, for example, autism or hearing loss. GeneTests is best used after you have formulated an initial differential diagnosis. You can then search GeneTests or the Genetic Testing Registry (described below) for laboratories to perform genetic testing or learn more about a specific condition on the differential.

SimulConsult
www.simulconsult.com/ SimulConsult provides a simultaneous consult about a patients diagnosis using free decision support software. SimulConsult can help build a differential diagnosis that includes genetic conditions, and suggests other useful findings, including tests. Tips for Using SimulConsult: You will need to register for a free user account. Begin by entering your patients age and gender, and add prominent or unusual features to refine the differential diagnosis list, or, access the software through GeneReviews when you are considering a specific diagnosis. Click on a syndrome on the differential list to link to other resources. When your differential is long, SimulConsult can help match your patients features to the most likely candidates. For tips on using SimulConsult, including demo videos: www.simulconsult.com/demo/index.html

OMIM: Online Mendelian Inheritance in Man

omim.org/ OMIM is a frequently-updated online catalog of genetic syndromes and gene associations. The full-text, referenced overviews contain information on all known Mendelian disorders and over 12,000 genes. You can search by a syndrome or gene name, or enter in clinical features (omim.org/search/advanced/clinicalSynopsis) to begin a genetic differential. Tips for Using OMIM: Enter the presenting symptoms of the individual, for example syndactyly AND developmental delay. When reviewing an OMIM article about a specific syndrome, review the Clinical Synopsis, available near the top of the page. This will give you an overview of the phenotypic variation of this particular syndrome. It does not, however, list the frequency that each symptom is present in individuals with the syndrome. Use the links on the right hand side of the page to find other resources on the syndrome. For more tips on using OMIM: omim.org/help

Published June 2013 NCHPEG All rights reserved

Genetic Testing Registry

www.ncbi.nlm.nih.gov/gtr/ The Genetic Testing Registry (GTR) is a new, free, centralized resource for finding information about genetic tests and laboratories. It includes options for searching by test name, the clinical condition in question, genes, and labs. For tips on using the GTR: www.ncbi.nlm.nih.gov/gtr/docs/help/

UptoDate
www.uptodate.com/ UptoDate requires a user subscription, and access is available through many hospital and academic networks. It is a decision support system that helps clinicians answer clinical questions quickly and easily at the point of care.

National Guidelines Clearinghouse

guideline.gov/ The National Guidelines Clearinghouse is a publicly available resource that provides access to evidence-based clinical practice guidelines. Use the Clearinghouse to search for guidelines about patient evaluation and management.

Published June 2013 NCHPEG All rights reserved

Evaluation & Testing Decisions Toolkit

Collaborating with and referring to genetics
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates risk assessment, education, and counseling. In some cases, it includes the offer and interpretation of genetic testing. The purpose is to help the patient and family to interpret and adapt to the genetic information, and make informed decisions based on his or her understanding of risks. Genetic counseling is best provided by specialists with knowledge and experience in clinical genetics, such as genetic counselors, physician geneticists, and advanced practice nurses trained in genetics. All providers, however, play a role in the genetic counseling process by: identifying patients who would benefit from genetic counseling, including patients who have personal or family histories suggestive of a hereditary syndrome; providing referral to genetic counseling services, informing patients about the reasons for and benefits of genetic counseling; helping patients identify what family medical information will be necessary for risk assessment; using the outcome of the genetics consultation to identify screening, risk reduction, and management plans; and answering questions for patients. Genetic counseling is also appropriate for patients at increased risk who do not wish to pursue genetic testing, and in cases where the patients risk status is uncertain. For questions about the need for referral, consult with the specialist.

Locating A Genetics Professional

American College of Medical Genetics: www.acmg.net National Society of Genetic Counselors: www.nsgc.org GeneTests Clinic Directory: www.genetests.org

published July 2012 NCHPEG All rights reserved

Checklist for Collaboration with a Genetics Professional

How to use this tool: This tool outlines the information you should include when referring a patient for genetic evaluation. You can print and fill it out for a patient, adapt it to use as a clinic form in your own practice, or transcribe the elements into an electronic referral form or template. Reason for Referral/History of Presenting Illness:

Developmental History On time (3) Gross Motor Fine Motor Speech Review of Systems and Physical Exam (3) if normal Constitutional Eyes ENT/Audiology Cardiovascular Respiratory Gastrointestinal Genitourinary Comments: Musculoskeletal Skin Psychiatric Endocrine Hematology Allergy Immunology Delayed (3) Regression (3)

Labs / Studies Normal (3) EEG EMG BAER MRI CT LP Metabolic Genetic Family History (3) if applicable DD MR/ID Stroke Headache/ Migraines Seizures Consanguinity Other Unremarkable published July 2012 NCHPEG All rights reserved Describe relationship to patient Abnormal (3) If abnormal, explain