Evaluation & Testing Decisions Toolkit

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Evaluation & Testing Decisions ToolkitDifferential Diagnosis

Published June 201 NCHPEGAll rights reserved

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 pediatricpresentations 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 hearingloss.

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
http://www.genetests.org/http://www.genetests.org/http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTestshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTestshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTestshttp://www.simulconsult.com/http://www.simulconsult.com/demo/index.htmlhttp://omim.org/http://omim.org/http://omim.org/search/advanced/clinicalSynopsishttp://omim.org/search/advanced/clinicalSynopsishttp://omim.org/search/advanced/clinicalSynopsishttp://omim.org/search/advanced/clinicalSynopsishttp://omim.org/http://www.simulconsult.com/demo/index.htmlhttp://www.simulconsult.com/http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTestshttp://www.genetests.org/


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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.
http://www.ncbi.nlm.nih.gov/gtr/http://www.ncbi.nlm.nih.gov/gtr/docs/help/http://www.ncbi.nlm.nih.gov/gtr/docs/help/http://www.uptodate.com/http://guideline.gov/http://guideline.gov/http://www.uptodate.com/http://www.ncbi.nlm.nih.gov/gtr/docs/help/http://www.ncbi.nlm.nih.gov/gtr/


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published July 2012

NCHPEGAll rights reserved

Evaluation & Testing Decisions ToolkitCollaborating 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 contribu-

tions 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 geneti-

cists, 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.

Geneticcounselingisalsoappropriateforpatientsatincreasedriskwhodonotwishtopursuegenetictesting,andincaseswherethepatientsrisk

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


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published July 2012

NCHPEGAll 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) Delayed (3) Regression (3)

Gross Motor

Fine Motor

Speech

Review of Systems and Physical Exam

(3) if normal

Constitutional Musculoskeletal

Eyes Skin

ENT/Audiology Psychiatric

Cardiovascular Endocrine

Respiratory Hematology

Gastrointestinal Allergy

Genitourinary Immunology

Comments:

Labs / Studies

Normal (3) Abnormal (3) If abnormal, explain

EEG

EMG

BAER

MRI

CT

LP

Metabolic

Genetic

Family History

(3) if

applicable

Describe relationship to patient

DD

MR/ID

Stroke

Headache/

Migraines

Seizures

Consanguinity

Other

Unremarkable

Documents

Evaluation & Testing Decisions Toolkit