Scientific & Clinical Posters

NSGC 2017

Next-generation counseling: A model for non-invasive prenatal screening results disclosure and patient management

  • Colleen Schmitt MS CGC, Aishwarya Arjunan MS CGC, Jamie Kostialik MS CGC, Dave Peticolas MS, Beth Denne MS CGC, Gabriel Lazarin MS CGC, Carrie Haverty MS CGC

Copy number variant calling on a 176 disease expanded carrier screening panel

  • Kyle A. Beauchamp, PhD; Peter Grauman, BS; Gregory J. Hogan, PhD; Kevin R. Haas, PhD; Genevieve M. Gould, PhD; Kenny K. Wong, MS CGC; Gabriel Lazarin, MS CGC; Eric A. Evans, PhD; Imran S. Haque, PhD; Dale Muzzey, PhD

Strategies to avoid false positives caused by maternal copy number variants in noninvasive prenatal screening

  • Eerik Kaseniit* MEng, Gregory J. Hogan* PhD, Kevin D’Auria PhD, Carrie Haverty MS LCGC, Dale Muzzey PhD

The Frequency and Impact of Dependent Alleles in Expanded Carrier Screening

  • Lisa Cushman Spock, PhD, CGC; Megan Judkins, MS, CGC; Jessica Connor, MS, CGC; Christine Lo, PhD; K. Eerik Kaseniit, MEng; Krista Moyer, MS, CGC; H. Peter Kang, MD; Eric A. Evans, PhD; Rebecca Mar-Heyming, PhD

Variants that cross the line: An internal review of classification evidence for truncations of the C-terminus

  • Megan Judkins; Jessica Connor; John Castiblanco; Nicole Beier; Matthew Brown; Christine Lo; Eric Evans; H. Peter Kang; Rebecca Mar-Heyming

Incidental detection of colon cancer via non-invasive prenatal screening and comparative re-screen after treatment

  • Susan Hancock, Kali Swift, Carrie Haverty, Greg Hogan, Kevin D’Auria, and Peter Kang

A pilot study of patient experience with an automated assessment tool for hereditary cancer risk

  • Lim-Harashima, J., Bucheit, L., Ready, K., Hafen, B., Bagley, H

AGBT 2017

When edge cases aren’t so “edgy” anymore: Providing prenatal cfDNA screening to the masses

  • Kevin R. Haas PhD, Carrie Haverty MS LCGC, Gregory J. Hogan PhD, Eerik Kaseniit MEng, Carlo G. Artieri PhD, Colleen Schmitt MS CGC, Dale Muzzey PhD

ISPD 2017

Next-generation counseling: A model for non-invasive prenatal screening results disclosure and patient management

  • Schmitt C, Arjunan A, Kostialik J, Peticolas D, Denne B, Lazarin G, Haverty C.

Copy number variant calling on a 176 disease expanded carrier screening panel including DMD

  • Beauchamp KA, Grauman P, Hogan GJ, Haas, KR, Gould GM, Wong KK, Lazarin G, Evans EA, Haque IS, Muzzey D.
  • Top Five Posters at ISPD 2017

Accurate Fetal Fraction from NIPS using Whole Genome Sequencing

  • Haas KR, D'Auria K, Tratner J, Oyolu C, Haverty C, Muzzey D.

ESHG 2017

Systematic design and comparison of expanded carrier screening panels.

Beauchamp KA, Lazarin GA, Kang HP, Wong KK, Evans EA, Goldberg JD, Haque IS, Muzzey D.

ACMG 2017

ClinVar submitter list leaderboard obscures extensive variation and bias in submission types.

  • Kaseniit KE, Karczewski K, Haque IS.
  • Received Top Rated Abstract Award

Duplication Tag SNP g.27134T>G should not be considered diagnostic of SMA carrier status.

  • Davison D, Kaseniit KE, Haque IS.
  • Received Top Rated Abstract Award

Counseling experience with incidental cancer genes in expanded carrier screening.

  • Wong KK, Bucheit L, Ready K, Denne E, Kaseniit KE, Artieri C.

Copy number variant calling on a 176 condition expanded carrier screening panel including DMD.

  • Beauchamp KA, Grauman P, Haas KR, Hogan GJ, Gould GM, Lazarin GA, Wong KK, Evans EA, Goldberg JD, Haque IS, Muzzey D.
  • Received Top Rated Abstract Award

Ensuring high accuracy of clinically relevant results from NGS data using high-throughput, custom software that enables expert human review.

  • Haas KR, Muzzey D, Hogan GJ, Kash S, Johnson J, Tran T, Olson E, Packer A, Krenesky P, Siddhanti S, Haque IS, Kang HP.

Discordance rates in reduced-penetrance genes: A look at ATM and CHEK2.

  • Judkins M, Castiblanco J, Candille S, Ray J, Hensley K, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R.

High-throughput curation and interpretation of inherited disease variants in a CLIA laboratory.

  • Karimi K, Mar-Heyming R, Moyer K, Kang HP, Beauchamp KA, Haque IS, Evans EA.

SMFM 2017

The impact of copy number analysis in expanded carrier screening.

  • Beauchamp KA, Grauman P, Haas KR, Hogan GJ, Gould GM, Lazarin GA, Wong K, Evans EA, Goldberg JD, Haque IS, Muzzey D.

AMP 2016

Validation of internal laboratory variant classifications using ClinVar.

  • Castiblanco J, Judkins M, Candille S, Beaumont C, Olson E, Evans EA, Haque IS, H. Kang HP, Mar-Heyming R.

Using simulation for improved design of clinical next-generation sequencing panels.

  • Gould G, Wang X, Grauman P, Hogan G, Robertson A, Maguire J, Kang HP, Haque IS, Evans EA.

ASHG 2016

Comparing the clinical yield of carrier screening: genotyping versus exon sequencing.

  • Beauchamp KA, Lazarin GA, Kang HP, Wong K, Evans EA, Goldberg JD, Haque IS.

Pre-test genetic counseling as a requirement for germline hereditary cancer testing: what do patients do?

  • Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K.
  • Top 10% abstract

ASRM 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

  • Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. ASRM 2016.

NSGC 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

  • Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Wong KK. NSGC 2016

A comparison of self-reported ethnicity and genetic ancestry.

  • Kaseniit KE, Lo C, Nazareth S, Wong KK, Haque IS. NSGC 2016.

Design and enhanced validation of a 36-gene guideline-compliant inherited cancer panel.

  • Gould G, Hogan G, Wang X, Robertson A, Theilmann M, Spurka L, Grauman P, Vysotskaia V, Leggett M, Maguire J, Kang HP, Haque IS, Ready K, Evans EA. NSGC 2016

Pretest genetic counseling as a prerequisite for hereditary cancer testing: what do patients do?.

  • Lazarin GA, Sedgwick K, Doyle D, Haque IS, Ready K. NSGC 2016.

The frequency of incidental findings in carrier screening.

  • Wong KK, Lazarin GA, Haque IS. NSGC 2016.

Comparing the clinical yield of carrier screening: genotyping versus exon sequencing.

Beauchamp KA, Lazarin GA, Kang HP, Wong KK, Evans EA, Goldberg JD, Haque IS. NSGC 2016.

Variant classification in an unaffected population, an example from expanded carrier screening and a comparison to ClinVar classifications.

Candille C, Judkins M, Castiblanco J, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R. NSGC 2016.

ACMG 2016

Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

  • Ghiossi C, Ready K, Lieber C, Goldberg JD, Haque IS, Wong, KK. ACMG 2016.
  • Received Top Rated Abstract Award

When cost is no barrier: Uptake in a metropolitan-area free inherited cancer screening program.

  • Pierson S, Berentsen K, Denne E, Nguyen W, Ready K, Goldberg JD, Haque IS. ACMG 2016.

Putting guidelines into action: Accurate computation of individualized positive predictive value for aneuploidy screening in cell-free DNA.

  • Lo C, Evans EA, Schmitt C, Haverty C, Haque IS, Goldberg JD. ACMG 2016.
  • Received Top Rated Abstract Award

Design and validation of an improved non-invasive prenatal screen for fetal aneuploidy.

  • Oyolu C, Azarshahy M, Bremner C, Chou E, Contreras D, Copeland N, D'Auria K, Hite D, Hogan G, Horn A, Jun C, Lai H, Lee A, Lui K, Muzzey D, O’Donoghue S, Tran T, Wan H, Haverty C, Haque IS, Evans EA. ACMG 2016.

Design of scalable gene panels for carrier screening.

  • Mehta N, Muzzey D, Leggett M, Wong KK, Lazarin GA, Evans EA, Haque IS. ACMG 2016.

2015

An NGS-based carrier screen for Congenital Adrenal Hyperplasia with 95% detection rate.

Muzzey D, Theilmann MR, D'Auria KM, Lai HH, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR. AMP 2015.

Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants.

Maguire JR, D'Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015.

NGS-based carrier screen for Gaucher’s disease calls variants and detects large rearrangements between GBA and GBAP1.

D'Auria KM, Theilmann MR, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire JR, Muzzey D. AMP 2015.

Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy.

Wang X, Wan HY, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. AMP 2015.

A unique service delivery model for genetic counseling services.

Denne EW, Gilats M, Lazarin GA, Goldberg JD. NSGC 2015.

Next-generation sequencing carrier screen for Alpha Thalassemia identifies both common and rare variants.

Maguire JR, D'Auria KM, Lai HH, Wang X, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015.

Carrier screening of 346,790 individuals reveals greater risk of severe recessive disease than of Down syndrome or NTDs

Haque IS, Lazarin GA, Raia M, Bellerose H, Muzzey D, D'Auria K, Kang HP, Evans EA, Goldberg JG. ASHG 2015. Reviewer's Choice Abstract.

NGS-based carrier screen for Gaucher's disease calls variants and detects large rearrangements between GBA and GBAP1.

D'Auria K, Theilmann M, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Maguire J, Muzzey D. ASHG 2015.

Next-generation sequencing assay accurately determines carrier status for Spinal Muscular Atrophy.

Wang X, Wan HW, Oyolu CB, Haas KR, Davison D, Iori K, Chu CS, Haque IS, Evans EA, Kang HP, Muzzey D. ASHG 2015.

Next-generation counseling: a model for genomic screening tests results disclosure and patient management.

Lazarin GA, Haque IS. ISPD 2015.

Expanded carrier screening of 322,484 individuals: the case for going beyond CF.

Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg J. ESHG 2015. Best Poster Award Candidate.

2014

Whole-exon haplotype calling for clinical next-generation sequencing.

Maguire J, Gibiansky A, Rasmussen M, Evans EA, Haque IS. ASHG 2014.

Tay-Sachs carrier screening by enzyme and molecular analyses in the New York City Black population.

Lazarin GA, Spiegel E, Berentsen K, Brennan K, Mehta N, Haque IS, Wapner R. ASHG 2014.

Next-generation sequencing for inherited cancer risk assessment: Under the hood at Counsyl.

Maguire J. ASCO Breast 2014.

Clinical next-generation sequencing assay development - understanding error modes and establishing analytical validity.

Maguire J, Evans EA, Haque IS, Kang HP, Patterson AS. ACMG 2014.

Observed population admixture in over 150,000 clinical samples: implications for screening guidelines.

Haque IS, Davison D, Maguire J, Evans EA. ACMG 2014.

Automated recuration and reclassification of genetic variants.

Brezo J, Patterson AS, Kaleta P, Rasmussen M, Kang HP, Evans EA. ACMG 2014.

Expanded carrier screening: genetic counselors' personal perspectives.

Ashkinadze E, Detweiler S, Nazareth SB, Yao X, Seymour C, Lazarin GA. ACMG 2014.

Expanded carrier screening: genetic counselors' perspectives on panel content.

Nazareth SB, Lazarin GA, Detweiler S, Ashkinadze E. ACMG 2014.

Expanded carrier screening: how genetic counselors view their roles.

Yao X, Detweiler S, Lazarin GA, Nazareth SB, Seymour E, Ashkinadze E. ACMG 2014.

Carrier screening for "Jewish" diseases in non-Jewish populations: findings from pan-ethnic population screening.

Lazarin GA, Ready K, Sheikh MA, Haque IS, Evans EA. SMFM 2014.

Strategies for population-wide genetic carrier screening: a cost-effectiveness analysis.

Weisinger R, Sheikh MA, Wong K, Evans EA, Haque IS, Pyeritz RE, Srinivasan R. SMFM 2014.

2013

Automated population-scale screening for fragile X: validation and experience on 76,421 samples.

Patterson SA, Theilmann MR, Chen Z, Haque IS. AMP 2013.

The worldwide burden of Mendelian disease: 423 variants in 114,934 ethnically diverse samples.

Haque IS, Lazarin GA, Davison D, Maguire J, Evans EA. AMP 2013.

Validation of and initial experience with a next-generation-sequencing-based 98-gene expanded carrier screening assay.

Kang HP, Maguire J, Tritt J, Foo CS, Patterson AS, Evans EA. AMP 2013.

2012

Comparison of the collective incidence of diseases in a multi-disease carrier screening panel to trisomy 21, 18 and 13: implications for screening recommendations.

Ready K, Nazareth S, Wong K, Evans L, Lazarin GA. NSGC 2012

Prevalence of single gene disorders among patients seeking infertility treatment.

Torrealday S, Lazarin GA, Patrizio P. ASRM 2012.

2011

Diagnosis of mild recessive multiple epiphyseal dysplasia through parental targeted screening test: case report.

Lacassie Y, Storment J, Lazarin GA. ACMG 2011.

Consanguinity as a primary clinical indication for high-throughput carrier screening.

Ashkinadze E, Seymour C, Lazarin GA, Marshall J, Rosen T, Santolaya J. ACMG 2011.

A survey of genetic counselors' attitudes and interest toward high-throughput carrier screening.

Ashkinadze E, Seymour C, Srinivasan R, Lazarin GA. ACMG 2011.

A retrospective analysis of results for 1,916 individuals tested for expanded genetic carrier screening.

Marshall JR, Lazarin GA, Jacobson J, Patrizio P, Srinivasan BS. SMFM 2011.

2010

A population-based cost-effectiveness analysis of four preconception Mendelian-recessive carrier screening strategies.

Marshall JR, Chang CC, Jacobson J, Wan J, Srinivasan R. ACOG 2010.