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Guideline Summary
Guideline Title
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Bibliographic Source(s)
Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010 Nov;12(11):742-5. [38 references] PubMed External Web Site Policy
Guideline Status

This is the current release of the guideline.

This guideline updates a previous version: Manning M, Hudgins L. Use of array-based technology in the practice of medical genetics. Genet Med 2007;9:650–653.

Scope

Disease/Condition(s)

Chromosomal abnormalities, including:

  • Developmental delay/intellectual disability (DD/ID)
  • Congenital anomalies
  • Dysmorphic features
Guideline Category
Evaluation
Technology Assessment
Clinical Specialty
Family Practice
Medical Genetics
Pathology
Pediatrics
Intended Users
Physicians
Guideline Objective(s)

To provide updated recommendations for the application of array-based technology in the practice of medical genetics

Target Population

Patients with the following:

  • Multiple anomalies not specific to a well-delineated genetic syndrome
  • Apparently nonsyndromic developmental delay/intellectual disability (DD/ID)
  • Autism spectrum disorders
Interventions and Practices Considered
  1. Cytogenetic microarray (CMA) testing
  2. Follow-up:
    • Genetic/fluorescence in situ hybridization (FISH) studies
    • Parental evaluation
    • Clinic genetic evaluation and testing
Major Outcomes Considered
  • Diagnostic yield of various genetic tests
  • Recurrence risk
  • Cost

Methodology

Methods Used to Collect/Select the Evidence
Searches of Electronic Databases
Description of Methods Used to Collect/Select the Evidence

The guideline authors searched PubMed; the UC Santa Cruz Database, Toronto Database of Genomic Variants, DECIPHER, ECARUCA, and GeneTests databases were referenced. The time frame of the search was from 1997 to 2010. The search terms used were: chromosomal microarray (CMA), comparative genomic hybridization (CGH), copy number variants, BAC/SNP/oligonucleotide array, whole genome/targeted array.

Number of Source Documents

Not stated

Methods Used to Assess the Quality and Strength of the Evidence
Not stated
Rating Scheme for the Strength of the Evidence

Not applicable

Methods Used to Analyze the Evidence
Review
Description of the Methods Used to Analyze the Evidence

Not stated

Methods Used to Formulate the Recommendations
Not stated
Rating Scheme for the Strength of the Recommendations

Not applicable

Cost Analysis

A formal cost analysis was not performed and published cost analyses were not reviewed.

Method of Guideline Validation
Not stated
Description of Method of Guideline Validation

Not applicable

Recommendations

Major Recommendations

Recommendations

  1. Cytogenetic microarray (CMA) testing for copy number variant (CNV) is recommended as a first-line test in the initial postnatal evaluation of individuals with the following:
    • Multiple anomalies not specific to a well-delineated genetic syndrome
    • Apparently nonsyndromic developmental delay/intellectual disability (DD/ID)
    • Autism spectrum disorders
  2. Further determination of the use of CMA testing for the evaluation of the child with growth retardation, speech delay, and other less well-studied indications is recommended, particularly by prospective studies and aftermarket analysis.
  3. Appropriate follow-up is recommended in cases of chromosome imbalance identified by CMA, to include cytogenetic/fluorescence in situ hybridization (FISH) studies of the patient, parental evaluation, and clinical genetic evaluation and counseling.
Clinical Algorithm(s)

None provided

Evidence Supporting the Recommendations

Type of Evidence Supporting the Recommendations

The type of evidence supporting the recommendations is not specifically stated.

Benefits/Harms of Implementing the Guideline Recommendations

Potential Benefits

Appropriate use of array-based technology for the detection of chromosomal abnormalities

Potential Harms

Not stated

Qualifying Statements

Qualifying Statements

This guideline is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

Implementation of the Guideline

Description of Implementation Strategy

An implementation strategy was not provided.

Institute of Medicine (IOM) National Healthcare Quality Report Categories

IOM Care Need
Living with Illness
IOM Domain
Effectiveness
Patient-centeredness

Identifying Information and Availability

Bibliographic Source(s)
Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010 Nov;12(11):742-5. [38 references] PubMed External Web Site Policy
Adaptation

Not applicable: The guideline was not adapted from another source.

Date Released
2007 (revised 2010 Nov)
Guideline Developer(s)
American College of Medical Genetics and Genomics - Professional Association
Source(s) of Funding

American College of Medical Genetics and Genomics

Guideline Committee

Professional Practice and Guidelines Committee

Composition of Group That Authored the Guideline

Authors: Melanie Manning, MD, MS, FACMG, Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California; Louanne Hudgins, MD, FACMG, Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California

Financial Disclosures/Conflicts of Interest

The authors declare no conflict of interest.

Guideline Status

This is the current release of the guideline.

This guideline updates a previous version: Manning M, Hudgins L. Use of array-based technology in the practice of medical genetics. Genet Med 2007;9:650–653.

Guideline Availability
Availability of Companion Documents

None available

Patient Resources

None available

NGC Status

This NGC summary was completed by ECRI Institute on November 19, 2013.

Copyright Statement

This NGC summary is based on the original guideline, which is subject to the guideline developer's copyright restrictions.

Disclaimer

NGC Disclaimer

The National Guideline Clearinghouse™ (NGC) does not develop, produce, approve, or endorse the guidelines represented on this site.

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