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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.
Publications by ARUP Genetic Counselors
Variant Interpretation
- Variant Interpretation is a component of clinical practice among genetic counselors in multiple specialties (2020)
- Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar (2018)
Genetic Test Information
- Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies (2022)
- Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (2021)
- Confirmatory Testing Can Aid Interpretation of SMN1 and SMN2 Copy Number for Patients with Gene Conversions (2017)
Utilization Management
- Laboratory Utilization Management System Assists with Familial Cytogenetic Testing: 3 Case Examples (2023)
- Prenatal Cytogenetic Test Review Adds Value to Clinical Care – Illustrated by Example Cases (2023)
- Assessing Success of a Quality Improvement Process for Tracking, Reviewing, and Correcting Constitutional Cytogenetic Test Orders in a Reference Laboratory (2020)
- All in the Family: How Genetic Counselors Facilitate Familial Genetic Testing (2019)
- 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)
- Genetic Counselor Review of Genetic Test Orders in a Reference Laboratory Reduces Unnecessary Testing (2014)
- How Are Genetic Counselors Strengthening Lab Utilization Management? (2014)
Find a Genetics Professional
Resources to locate a medical genetics professional.
- Find a Genetic Counselor: National Society of Genetic Counselors Home (nsgc.org)
- Find a Genetic Service: American College of Medical Genetics and Genomics Directories (acmg.net)
Other Resources
Key publications relevant to testing for hereditary genetic disease.
Carrier Screening
- Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) (2023)
- Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors (2023)
- Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences (2022)
- 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)
- CFTR Variant Testing: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG) (2020)
- Carrier Screening for Genetic Conditions. ACOG #691 (2017)
- Carrier Screening in the Age of Genomic Medicine. ACOG #690 (2017)
- ACMG position statement on prenatal/preconception expanded carrier screening (2013)
- ACOG Practice Bulletin No. 78: Hemoglobinopathies in Pregnancy (2007)
Developmental Disabilities, Autism, and Congenital Anomalies
- 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)
- Executive Summary: Identification, Evaluation, and Management of Children With Autism Spectrum Disorder (2020)
- 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)
- Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays (2014)
- Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders: 2013 Guideline Revisions (2013)
- 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)
- Array-Based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities (2010)
Genetic Testing in Children
- Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents (2017)
- Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (2015)
- Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children (2013)
- Genetic Screening for Multiple Endocrine Neoplasia Syndrome Type 1 (MEN-1): When and How (2010)
- Genetic Testing in Adoption (2007)
Hereditary Cancer
- Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes—Practice resource of the National Society of Genetic Counselors (2021)
- 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 (2019)
- Addendum: 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 (2019)
- 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 (2014)
- National Comprehensive Cancer Network (NCCN) Guidelines
Huntington Disease
- Genetic Testing Protocol for Huntington's Disease (2016)
- Laboratory Guidelines for Huntington Disease Genetic Testing (1998)
Cell-Free DNA (cfDNA) Prenatal Screening and Noninvasive Prenatal Testing (NIPT)
- Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies (2023)
- Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)(2023)
- International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies (2020)
- Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226 (2020)
- 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)
- The Role of Ultrasound in Women Who Undergo Cell-Free DNA Screening (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)
Chromosome and Microarray Testing
- 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)
- Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology (2016)
- The Use of Chromosomal Microarray for Prenatal Diagnosis (2016)
- NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy (2013)
- ACMG Standards and Guidelines for Constitutional Cytogenomic Microarray Analysis, Including Postnatal and Prenatal Applications: Revision 2013 (2013)
Fluorescence In Situ Hybridization (FISH)
General Resources
- Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) (2023)
- Management of Stillbirth (2020)
- Practice Bulletin No. 226: Screening for Chromosomal Abnormalities (2020)
- Diagnostic Testing for Uniparental Disomy: A Points to Consider Statement From the American College of Medical Genetics and Genomics (2020)
- 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)
- Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders (2016)
- American College of Medical Genetics and Genomics: ACT Sheets and Algorithms
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)
- International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. (2022)
- 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)
Variant Interpretation and Reporting
- ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (2021)
- 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)
- 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)
- Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) (2019)
- 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)
- Clinical Sequencing Evidence-Gathering Research (CSER) Consortium
