GENETIC COUNSELORS
BREAKING GROUND
IN GENOMIC
SEQUENCING RESEARCH
BY JULIA WYNN, MS, CGC; SARAH SCOLLON, MS, CGC; AND DENISE LAUTENBACH, MS, CGC
PERSPECTIVES IN GENETIC COUNSELING
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QUARTER 3, 2014
Genomic sequencing (GS) offers exciting possibilities, but it also raises concerns regarding variant interpretation, managing secondary/incidental findings, informed consent, educating patients and providers, and
privacy. The National Human Genome Research Institute’s Clinical Sequencing Exploratory Research (CSER)
Program aims to develop methods, characterize challenges, and identify ethical, legal, and social issues (ELSI)
associated with applying GS to clinical care. CSER consists of 18 projects, encompassing a range of clinical
contexts into which GS may be integrated. Genetic counselors play diverse roles in CSER.
The BASIC 3 (Baylor Advancing Sequencing into
Childhood Cancer Care) study examines the incorporation of clinical tumor and constitutional
whole exome sequencing (WES) into childhood cancer care. BASIC 3 evaluates preferences of families and
oncologists regarding the reporting and utility of results.
Sarah Scollon and Katie Bergstrom conduct project
planning, informed consent, education of families/clinicians, and results disclosure.
The HudsonAlpha Institute for Biotechnology is
evaluating WES for pediatric patients with developmental delay and related health problems.
Primary and secondary results are returned based
on parent preference. The team assesses the psychosocial impact of returning results. Kelly East provides
counseling and education, variant review, and writes
WES reports.
Denise Lautenbach is the Project Manager
for the MedSeq Project, focused on integrating whole genome sequencing into primary
care and cardiology. She conducts physician and
patient interviews and coordinates a resource center for
physicians to consult regarding results. Allison Cirino,
Monica Giovanni, Danielle Metterville, Kalotina Machini, and Leila Jamal recruit subjects, educate physician participants, write reports, conduct variant analysis,
and analyze qualitative data.
The Michigan Oncology Sequencing Project
(MI-ONCOSEQ) examines WES for patients
with metastatic or refractory cancer or rare
tumors through genomic profiling of somatic and
germline DNA. Jessica Everett and Victoria Raymond
collect family history and elicit patient preferences for
receiving germline findings. They review all germline
findings and participate in a multi-disciplinary Precision
Medicine Tumor Board.
The NCGENES (North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing) study investigates the utility and impact of
exome sequencing as a clinical tool for diagnosing
individuals with suspected Mendelian disorders. Myra
Roche is Chief of Project Operations. Kate Foreman,
Kristy Lee, Julianne O’Daniel, and Cecile Skrzynia are
involved in enrollment, return of results, variant interpretation, and development of educational materials.
The University of Washington NEXT Medicine
(New EXome Technology in Medicine) study
examines the addition of WES for patients receiving colorectal cancer genetic testing. Project
Manager Laura Amendola consents participants, interprets variants, returns results, and develops manuscripts.
Robin Bennett, Lorraine Naylor, Brad Rolf, and Emily
Malouf identify potential participants and coordinate patient visits.
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The NextGen study at Kaiser Permanente assesses the effectiveness of GS for preconception carrier screening. NextGen explores how
participants choose types of carrier results to receive and how they use the results. Mari Gilmore and
Pat Himes are involved in project management, patient
recruitment, consent, and results disclosure.
The CHOP Pediatric Genetic Sequencing (PediSeq) offers WES to pediatric patients with hearing
loss, intellectual disability, mitochondrial disease,
or sudden cardiac arrest. PediSeq examines participants’ opinions and experiences receiving primary and
secondary WES results. Elizabeth Dechene and Sawona
Biswas are Project Managers. Barbara Bernhardt leads
the assessment of psychosocial outcomes. A team of GCs
conducts informed consent and results sessions. Alisha
Wilkens and Surabhi Mulchandani analyze molecular
data and assist with report generation.
The CanSeq Project at Dana-Farber Cancer Institute studies the impact of WES on medical
management of patients with lung and colorectal adenocarcinomas, and evaluates physician and
patient understanding and psychosocial impact. Irene
Rainville and Elaine Hiller train research coordinators in
consent, interpret variants, draft and review WES reports,
and contribute to decisions regarding returning results.
Julia Wynn examines the psychological impact
of returning secondary findings from research
WES at Columbia University. Sarah Savage from
Boston Children's Hospital studies parental preferences for returning genetics research results to children.
Seattle Children’s Hospital is assessing preferences for return and management of WES results and the effectiveness of
a web-based tool, My46.org. Seema Jamal provides variant analysis and interpretation, results disclosure, and overall
project management. Together with Seema, Karin Dent has developed the counseling content and features of My46.
PERSPECTIVES IN GENETIC COUNSELING
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The other CSER projects do not involve GCs but are relevant to GC practice. For more information on the CSER
projects, visit https://cser-consortium.org, and follow us on Twitter (@hail_CSER).
Julia Wynn, MS, CGC, is a Senior Genetic
Counselor and Research Coordinator at New
York Presbyterian Hospital/Columbia University
Medical Center. She practices cardiogenetic and
prenatal counseling and her research focuses on
the genetics of congenital diaphragmatic hernia
(www.cdhgenetics.org) and secondary findings
from genomic sequencing.
Sarah Scollon, MS, CGC, is a Genetic Counselor with Baylor College
of Medicine and Texas Children’s
Cancer Center. She provides clinical services to pediatric cancer
patients and families and is a study genetic
counselor for the Baylor College of Medicine Advancing Sequencing in Childhood Cancer Care
(BASIC3) study. She currently serves as a CoChair for the CSER Genetic Counseling Working Group.
CONNECT WITH JULIE:
Denise Lautenbach, MS, CGC, is a
Genetic Counselor and Research
Project Manager for the Genomes2People Research Program in
Translational Genomics and Health
Outcomes at Brigham and Women's Hospital in
Boston, MA. She is the Project Manager for the
MedSeq Project and serves as the Co-Chair for
the CSER Genetic Counseling Working Group.
CONNECT WITH DENISE:
CONNECT WITH SARAH:
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