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Genetic Testing in Human:
The Clinician’s Perspective
http://www.ncbi.nlm.nih.gov/
sites/GeneTests/
Genetic Testing in Human
1.
Molecular genetic testing in
patient care
2.
GeneTests
3.
Essential elements of testing for
clinicians
Uses of Molecular Genetic Testing

To help physicians provide the best
medical care for a patient with an
inherited disorder

To help a person with an inherited
disorder make informed personal
decisions
Molecular Genetic Testing:
a.Medical Care

Diagnostic testing in symptomatic
persons

Predictive testing in asymptomatic
persons when treatment is
available
Medical Care:
a1.Symptomatic Person

Establish a diagnosis (e.g., Huntington
disease: HD gene testing is the only way
to make the diagnosis with certainty)

Confirm a diagnosis (e.g., HNPCC:
MLH1/MSH2 testing in a person who
does not quite meet Amsterdam criteria)
Medical Care:
a2.At-risk Asymptomatic Person
Predictive testing: Identify family members
who have the disease-causing mutation
before symptoms appear so that they can be
monitored for early signs of the disease and
treated promptly to reduce morbidity and
mortality (e.g., HNPCC)
65 y
33 y
65 y
28 y
40 y
Proband
HNPCC
50% risk
Indeterminate risk
15 y
13 y
12 y
Molecular Genetic Testing:
b.Personal Decision-making*

Carrier testing: Autosomal recessive
disorders

Predictive testing: No treatment available

Prenatal diagnosis/Preimplantation
genetic diagnosis (PGD)
*Results of testing do not help medical care
Genetic Testing
1.
Molecular genetic testing in clinical
practice: BASIC PRINCIPLES
2.
GeneTests
3.
Clinical testing: Essential elements
for clinicians
www.genetests.org
• GeneReviews: “User manual” for genetic testing for
specific diseases
 405 GeneReviews
 One new Review added each week
• Laboratory Directory: “Yellow Pages” of genetics labs
 ~610 Clinical and research laboratories
 ~1460 Inherited diseases
 ~1180 clinical tests ~280 research only
• Illustrated Glossary: Genetic counseling and testing terms
Molecular genetic testing:

Testing used in patient care must be done
in “clinical” laboratories, not research
laboratories

Clinical laboratories have to meet
standards set by federal law (“BHP”)
GeneReviews

Useful to all clinicians regardless of availability
of molecular genetic testing

Provide to non-expert clinicians information on
the diagnosis, management and genetic
counseling of patients with inherited disorders
and their families

Expert-authored, peer-reviewed, updated
regularly
GeneReviews: Search by Disease
GeneReviews: Search by Disease
HNPCC
GeneReviews: Disease Search Result
Clinical Testing
Research Testing
GeneReview
Consumer Oriented Resources
GeneReviews: Search by Title
GeneReviews: Search by Title
GeneReviews: HNPCC
Disease search result: Select Reviews button
Title search result: Select HNPCC from the list
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary Non-Polyposis Colon Cancer
Hereditary Sensory Neuropathy Type I
Hereditary Spastic Paraplegia Overview
GeneReviews Content
Summary
Diagnosis
Clinical Description
Differential Diagnosis
Management
Genetic Counseling
Molecular Genetics
Resources
References
GeneReviews
Summary
One paragraph on:
Disease characteristics
Diagnosis/testing
Management
Genetic counseling
GeneReviews
Diagnosis
Clinical Diagnosis
Testing
Molecular genetic testing
Testing strategy (Order in which to
use all the testing described above
for diagnosis)
GeneReviews
Clinical Description
Natural History
What are the clinical findings in this
disorder?
What happens over time to people who have
this condition?
How does the disease progress?
GeneReviews
Differential Diagnosis
What other conditions are similar to this
condition?
GeneReviews
Management
Evaluations Following Initial Diagnosis
Treatment of Manifestations
Prevention of Primary Manifestations
Prevention of Secondary Complications
Surveillance
Agents/Circumstances to Avoid
Testing of Relatives at Risk
Therapies Under Investigation
GeneReviews
Genetic Counseling
Risk to Family Members
•
•
•
Parents of a proband
Sibs of a proband
Offspring of a proband
Prenatal Testing
Genetic Testing
1.
Molecular genetic testing in clinical
practice: BASIC PRINCIPLES
2.
GeneTests: EASY TO USE
3.
Essential elements of genetic testing
for clinicians
Genetic Testing:
Essential Elements for Clinicians

Educational materials about the disease
and the test

Test result report forms that explain the
test and the patient’s test result

Collection of data on phenotype and
genotype
Essential Elements:
Educational Materials
What is the test?
 What is the test used for?
 Who should be tested?
 What does a positive test result mean for
the patient?
 What does a negative test result mean for
the patient?

Essential Elements:
Test Result Report Forms

Clinical Indication: Why is the test being performed?

Results: Normal, abnormal, uncertain

Interpretation: What do results mean for this patient?

Limitations: What can’t the test do?

Suggestions for test result clarification: Testing other
family members, other tests to do

Test methods: How was this test performed?

Resources: Links or citations to help the clinician
understand more about the disease or test

References: Literature citations
Genetic Testing:
Data Collection

A one page (electronic) phenotype data
collection form to be filled in by the
clinician at the time the test is ordered.
Must be anonymous to protect the patient.

Central database for phenotype data and
genotype data when testing is completed
Thank you !
http://www.ncbi.nlm.nih.gov/site
s/GeneTests/