Genetic Counseling—Resources

Contributions by ARUP Genetic Counselors

As the field of genetics advances, it is extremely difficult for clinicians and others to stay up to date with the latest information.
Our genetic counselors (GCs) share their expertise internally and externally. They:

• Collaborate with Research and Development (R&D) to develop new tests and generate educational materials
• Drive discoveries by sharing data
• Curate and coordinate submissions to ClinGen/ClinVar, a registry for variant data
• Contribute to scientific publications

To read published articles and other information to which ARUP GCs have contributed, visit the links below.

Data-Sharing Collaborations

• Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar (2018)

Genetic Test Information

• Confirmatory Testing Can Aid Interpretation of SMN1 and SMN2 Copy Number for Patients with Gene Conversions (2017)

Utilization Management

• All in the Family: How Genetic Counselors Facilitate Familial Genetic Testing (2019)
• Assessing Success of a Quality Improvement Process for Tracking, Reviewing, and Correcting Constitutional Cytogenetic Test Orders in a Reference Laboratory (2020)
• Genetic Counselor Review of Genetic Test Orders in a Reference Laboratory Reduces Unnecessary Testing (2014)
• How Are Genetic Counselors Strengthening Lab Utilization Management? (2014)
• Is It Really BRCA1 or BRCA2? The Importance of Confirming the Familial Mutation in a “BRCA”-Focused World (2018)
• Utilization Management and Beyond: The Many Roles of Genetic Counselors in the Lab (2016)

Other Resources

Carrier Screening

• ACOG Practice Bulletin No. 78: Hemoglobinopathies in Pregnancy (2007)
• Carrier Screening for Genetic Conditions. ACOG #691 (2017)
• Carrier Screening in the Age of Genomic Medicine. ACOG #690 (2017)
• CFTR Variant Testing: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG) (2020)
• Expanded Carrier Screening in Reproductive Medicine-Points to Consider: A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine (2015)
• Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception: A Practice Resource of the American College of Medical Genetics and Genomics (ACMG) (2021)

Developmental Disabilities, Autism, and Congenital Anomalies

• Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities (2010)
• Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders: 2013 Guideline Revisions (2013)
• Clinical Genetic Testing For Patients With Autism Spectrum Disorders (2010)
• Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays (2014)
• Confirmation of Chromosomal Microarray as a First-Tier Clinical Diagnostic Test for Individuals With Developmental Delay, Intellectual Disability, Autism Spectrum Disorders and Dysmorphic Features (2013)
• Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals With Developmental Disabilities or Congenital Anomalies (2010)
• Evidence Report: Genetic and Metabolic Testing on Children With Global Developmental Delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society (2011)
• Yield of Additional Genetic Testing After Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: A Clinical Practice Resource of the American College of Medical Genetics and Genomics (ACMG) (2018)

General Resources

• American College of Medical Genetics and Genomics: ACT Sheets and Algorithms
• Professional Responsibilities Regarding the Provision, Publication, and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Consider: A Statement of the American College of Medical Genetics and Genomics (ACMG) (2018)

Genetic Testing in Children

• Genetic Screening for Multiple Endocrine Neoplasia Syndrome Type 1 (MEN-1): When and How (2010)
• Genetic Testing in Adoption (2000)
• Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (2015)
• Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents (2017)
• Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children (2013)

Hereditary Cancer

• Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors (2011)
• National Comprehensive Cancer Network (NCCN) Guidelines
• Points to Consider: Is There Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for All Breast Cancer Patients? A Statement of the American College of Medical Genetics and Genomics (ACMG) (2020)
• A Practice Guideline From the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: Referral Indications for Cancer Predisposition Assessment (2015)

Huntington Disease

• Laboratory Guidelines for Huntington Disease Genetic Testing (1998)

Prenatal Screening and Diagnosis

Cell-Free DNA (cfDNA) Prenatal Screening and Noninvasive Prenatal Testing (NIPT)

• Diagnostic Cytogenetic Testing Following Positive Noninvasive Prenatal Screening Results: A Clinical Laboratory Practice Resource of the American College of Medical Genetics and Genomics (ACMG) (2017)
• Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics (2016)
• Non-Invasive Prenatal Testing for Aneuploidy and Beyond: Challenges of Responsible Innovation in Prenatal Screening (2015)
• The Role of Ultrasound in Women Who Undergo Cell-Free DNA Screening (2017)
• Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226 (2020)

Chromosome and Microarray Testing

• ACMG Standards and Guidelines for Constitutional Cytogenomic Microarray Analysis, Including Postnatal and Prenatal Applications: Revision 2013 (2013)
• Diagnostic Testing for Uniparental Disomy: A Points to Consider Statement From the American College of Medical Genetics and Genomics (2020)
• Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology (2016)
• NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy (2013)
• The Use of Chromosomal Microarray for Prenatal Diagnosis (2016)

Fluorescence In Situ Hybridization (FISH)

• Technical and Clinical Assessment of Fluorescence In Situ Hybridization: An ACMG/ASHG Position Statement. I. Technical Considerations: Test and Technology Transfer Committee (2000)

General

• Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders (2016)
• Practice Bulletin No. 163: Screening for Fetal Aneuploidy (2016)

Maternal Serum Screening

• Laboratory Screening and Diagnosis of Open Neural Tube Defects, 2019 Revision: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG) (2020)
• Screening for Fetal Aneuploidy and Neural Tube Defects (2009)

Next Generation Sequencing (NGS)

• Exome and Genome Sequencing for Pediatric Patients With Congenital Anomalies or Intellectual Disability: An Evidence-Based Clinical Guideline of the American College of Medical Genetics and Genomics (ACMG) (2021)
• Joint Position Statement From the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the Use of Genome-Wide Sequencing for Fetal Diagnosis (2018)

Variant Interpretation and Reporting

• Clinical Sequencing Evidence-Gathering Research (CSER) Consortium
• Incidental Detection of Acquired Variants in Germline Genetic and Genomic Testing: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG) (2021)
• Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2021 Update: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG) (2021)
• Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015)
• Technical Standards for the Interpretation and Reporting of Constitutional Copy-Number Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (2020)