Genetic Counseling—Resources

Contributions by ARUP Genetic Counselors

As the field of genetics advances, it is extremely difficult for clinicians and others to keep up with it. Our genetic counselors share their expertise internally and externally, collaborating in R&D and in generating educational materials. They help drive discoveries by sharing data; ARUP’s genetic counselors manage many variant databases and contribute to ClinGen/ClinVar, a national registry for variant data.

Our genetic counselors share knowledge by contributing widely to publications, further advancing the field. Topics range from test utilization management to case reports to new genetic test information.

To read these published articles, visit the links below.

Utilization Management

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

Genetic Test Information

• Confirmatory Testing Can Aid Interpretation of SMN1 and SMN2 Copy Number for Patients with Gene Conversions
  • Abstract
  • Poster
• The First Clinical Reports of 14q32 Deletions That Involve DICER1 and Are Associated With DICER1 Related Tumor Development
• Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

Data Sharing Collaborations

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

Other Resources

Carrier Screening

• Carrier Screening for Genetic Conditions. ACOG #691 (2017)
• Carrier Screening for Spinal Muscular Atrophy. ACMG (2008)
• Carrier Screening in Individuals of Ashkenazi Jewish Decent. ACMG (2008)
• Carrier Screening in the Age of Genomic Medicine. ACOG #690 (2017)
• Cystic Fibrosis Population Carrier Screening Statement. ACMG (2004)
• Expanded Carrier Screening in Reproductive Medicine-Points to Consider. AMCG/ACOG/NSGC (2015)
• Hemoglobinopathies in Pregnancy. ACOG #78 (2007)
• Screening for autosomal recessive and X-linked conditions during pregnancy and preconception. ACMG Practice Resource (2021)
• CFTR variant testing: a technical standard of the ACMG (2020)

Developmental Disability, Autism, and Congenital Anomalies

• Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. ACMG (2010)
• Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. ASHG (2010)
• Clinical genetic testing for patients with autism spectrum disorders. AAP (2010)
• Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ACMG (2013)
• Comprehensive evaluation of the child with intellectual disability or global developmental delays. AAP (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. EPNS (2013)
• 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. AAN (2011)
• Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the ACMG (2018)

General Resources

• ACT Sheets and Algorithms. ACMG
• Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider. ACMG (2018)

Genetic Testing in Children

• Genetic Screening for MEN1: when and how (2010)
• Genetic Testing and Screening in Children. AAP (2013)
• Genetic Testing in Adoption. ASHG/ACMG (2000)
• Genetic Testing in Children and Adolescents. ASHG (2015)
• Genetic Testing and Screening of Children. ACMG (2013)
• Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents (2017)

Hereditary Cancer

• National Comprehensive Cancer Network (NCCN) Guidelines
• Referral Indications for Cancer Predisposition Assessment. ACMG/NSGC (2015)
• 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.
• Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Huntington Disease

• Genetic Testing Protocol for Huntington’s Disease. HDSA (2016)
• Laboratory Guidelines for Huntington Disease Genetic Testing. ASHG/ACMG (1998)

Prenatal Screening and Diagnosis

cfDNA Prenatal Screening (NIPT)

• Diagnostic cytogenetic testing following positive noninvasive prenatal screening results. a clinical laboratory practice resource of the ACMG (2017)
• Noninvasive prenatal screening for fetal aneuploidy: ACMG Position Statement (2016)
• Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening: ASHG and the European Society of Human Genetics (2015)
• The role of ultrasound in women who undergo cell-free DNA screening: SMFM Consult series 42 (2017)
• Screening for fetal chromosomal abnormalities: ACOG, SMFM Practice Bulletin # 226 (2020)

Chromosome and Microarray Testing

• Diagnostic testing for uniparental disomy:. ACMG Points to Consider (2020)
• Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. ACOG #682 (2016)
• Prenatal screening and diagnostic testing options for chromosome aneuploidy. NSGC (2013)
• Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. ACMG (2013)
• The use of chromosomal microarray for prenatal diagnosis. SMFM Consult series 41 (2016)

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

• Prenatal Diagnostic Testing for Genetic Disorders. ACOG #162 (2016)
• Screening for Fetal Aneuploidy. ACOG #163 (2016)

Maternal Serum Screening

• Screening for fetal aneuploidy and neural tube defects. ACMG Practice Guideline (2009)
• Laboratory screening and diagnosis of open neural tube defects. ACMG Technical Standard (2019)

Next Generation Sequencing (NGS)

• Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. ACMG Clinical Guideline (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 Exploratory Research (CSER) Consortium
• Incidental detection of acquired variants in germline genetic and genomic testing. ACMG Points to Consider (2021)
• Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2021 Update (ACMG SF v.3.0)
• Standards and Guidelines for the Interpretation of Sequence Variants. ACMG/AMP (2015)
• Standards for the interpretation and reporting of constitutional copy-number variants. ACMG and ClinGen Consensus Recommendation (2020)