Download Laboratory Newsletter | 2015 vol 1

Newsletter
for health care providers regarding services from the Human Genetics Laboratory at UNMC
Remembering Warren Sanger, Our Leader
by John Keenan, UNMC public relations
Warren Sanger, Ph.D., director of
the Human Genetics Laboratory and
director of genetic medicine at the
Munroe-Meyer Institute (MMI), died
February 5th, 2015 at the age of 69.
Board certified in clinical cytogenetics and PhD
medical genetics, Dr. Sanger was a founding
fellow of the American College of Medical
Genetics and Genomics and the leader of our
genetics laboratory for over 40 years. He was
also a professor in the departments of pediatrics
and pathology and microbiology and author or coauthor of almost 300 peer-reviewed publications.
With the passing of Dr. Sanger, our laboratory
team lost our beloved leader, and the genetics
world lost a giant. But if Dr. Sanger’s stature
in the world of genetics was imposing, you
wouldn’t have known it by the way he ran
his lab and his department – one of the
reasons we will all miss him so much.
“I think Warren can be best summed up in that
every single person, no matter their station in
life, called him Warren,” said Tanner Hagelstrom,
Ph.D., the interim director of the lab. “He was
not Dr. Sanger, famous scientist. He was
Warren. He was a friend to everyone.”
He believed in that personal touch not
only for himself, but for the lab.
“He believed strongly that clinical perspective
was critically important to the interpretation of
laboratory tests,” said genetic counselors Dani
Bishay and Rachel Barbar. “Before many labs
chose to do so, he added genetic counselors
to the laboratory for this perspective. While
colleagues knew that Warren was always a
phone call away to answer clinical questions,
he specifically trained us to do the same.
We are happy to field clinical or testing
questions for you and your patients.”
Jennifer Sanmann, Ph.D., associate laboratory
director, said the lab was a reflection of Warren’s
vision, hard work, and compassionate soul.
“Like so many of my colleagues, I was fortunate
to call Warren both my mentor and my friend for
more than a decade,” she said. “Committed to
empowering his team, Warren has well-prepared
us for the day when he is no longer just a few
short steps down the hall with a cup of coffee, a
welcoming smile, and words of gentle guidance.
As we forge ahead without our beloved leader,
know that we do so with the lessons that he
taught us in tow: honesty, humility, compassion,
and an unparalleled commitment to patient care.”
That commitment showed in the way Warren
“grew” the laboratory over more than 40
years – through personal visits and phone
conversations, not pitches or persuasion,
said marketing specialist Nikki Hackendahl.
“That is a quality so unique amid a market
of large commercial laboratories, budgets,
and sales teams. While I cannot promise
to embrace his love for fishing, moving
forward I do extend his personal promise to
provide you with individualized service.”
UNMC Human Genetics Laboratory Newsletter | 2015 vol 1
New Look, Same Promise
The University of Nebraska Medical Center (UNMC) recently released a new logo
(see above). As part of the UNMC family, all of our laboratory materials will also
adopt this look. These branding changes have been applied to most of our printed
and online material; however, you may still see the old logo on things previously
disseminated prior to the change, especially test collection kits and test request
forms, during this time of transition.
To ensure the most current information is available to your facility and patients, we
encourage you to begin using materials containing the new logo. Please contact
our marketing specialist if your facility is in need of printed materials, such as test
request forms or patient brochures. Collection kits are currently being updated,
but kits containing the old logo do not need to be replaced unless expired.
Newsletter
On behalf of our entire Human Genetics Laboratory team, we would like to
personally thank you for putting your trust in our expertise. We promise to
uphold what you have come to know and expect as Dr. Sanger’s “patient-first”
commitment and welcome your feedback regarding how we can better meet the
needs of you and your patients.
2015 volume 1
This Newsletter is produced by the
Human Genetics Laboratory, part of
the Munroe-Meyer Institute, at the
University of Nebraska Medical Center.
For additional printed copies, or
other information, please contact:
Nicole (Nikki) Hackendahl, BS
Marketing Specialist
402-559-6935 | [email protected]
UNMC Human Genetics Laboratory
985440 Nebraska Medical Center
Omaha, NE 68498-5440
402.559.5070
[email protected]
unmc.edu/geneticslab
The Human Genetics Laboratory Team
University of Nebraska Medical Center
est. 1974
MISSION: To provide accurate and affordable genetic testing and interpretation
for the patients we serve.
Newsletter | 2
Laboratory Expands To Hereditary Cancer Testing
Approximately 1 in 3
people in the United
States will develop cancer
in his or her lifetime.1
In order to identify genetic changes that
are known to predispose a person to
a particular type of cancer (and some
other noncancerous conditions), our
laboratory has developed 7 tissuespecific hereditary cancer panels.
In most cases, cancer develops later
AVAILABLE PANELS:
-- Breast7
-- BreastIOvarianIUterine26
-- Colorectal20
-- EndocrineIParagangliomaPheochromocytoma17
in life in people without a significant
Identifying a disease-causing
family history of the disease. For these
(pathogenic) change in any of the
patients, the cancer is often thought to
genes included in each panel provides
-- Neuro17
be “sporadic” or to have developed by
potentially actionable results, including
chance over time. However, for a subset
treatment and/or risk reduction.
-- Pancreatic14
of patients, this is not the case. Rather,
Additionally, this information allows
these individuals develop cancer that is
for the targeted genetic screening
termed “hereditary” or is the result of
of at-risk family members.
a genetic change present since birth.
Often, physicians and genetic counselors
can use information from the patient’s
personal and family history to determine
if there is an increased likelihood that
an individual’s cancer is hereditary.
Factors that result in an increased
likelihood of hereditary cancer include:
• The type of cancer is rare.
• Cancer presents at an early age.
• Multiple family members have the
same or related cancers.
• Multiple cancers are present
in the same person.
Current literature suggests that both
sequencing-based changes (changes
at the DNA base pair level) and copy
number changes (deletions or duplication
within the gene of interest) have been
identified in patients with hereditary
cancers. Thus, to ensure comprehensive
assessment of the genes of interest,
each of our hereditary cancer panels
includes two testing components:
-- Renal19
A complete list of genes and testing
indications for each of our panels,
as well as logistical information (test
request forms, specimen requirements,
turnaround times), is available on
our laboratory website. Additionally,
if you or your team would like to
learn more about how these panels
would benefit your patients, please
contact the laboratory to speak with
a genetic counselor or director.
sequencing analysis and high resolution
deletion/duplication analysis.
1 “Lifetime Risk of Developing or Dying From Cancer,” October 1, 2014. http://www.cancer.org/cancer/cancerbasics/lifetime-probability-of-developing-or-dying-from-cancer
Newsletter | 3
“Chromosome analysis
is the foundation of our
laboratory. Our team is
dedicated to providing
accurate and timely
cytogenetic studies
across all oncologic
specimen types.”
Chromosome Analysis:
Clinical Utility Stands
the Test of Time
Chromosome Analysis (conventional
cytogenetics) has been used by laboratories
for decades for the identification of
diagnostic and prognostic genetic markers
in oncologic specimens, including bone
marrow aspirates, peripheral blood
specimens, lymph node biopsies, solid
tumor tissues, and other body fluids.
Chromosome analysis is also frequently referred to as
G-banding because of the technique used to differentially stain
(“band”) chromosomes for improved characterization. In the
laboratory, our team analyzes the metaphase chromosomes
Chris Higgins, BS, CG(ASCP)CM
Cytogenetics Supervisor
from cells of interest and organizes them into a karyotype
that accompanies the final report (see image below).
Chromosome analysis has many advantages. This technique is
a whole genome approach, characterizing both numerical and
structural abnormalities throughout all chromosomes. Unlike
48,XY,+8,t(9;22),i(17),+der(22) BONE MARROW KARYOTYPE
more focused laboratory techniques such as fluorescence
in situ hybridization (FISH), a specific aberration of interest
does not need to be identified prior to analysis. Thus,
chromosome analysis allows for the identification of hallmark
abnormalities associated with a given diagnosis (e.g., a
translocation between the long arms of chromosomes 11 and
14 in mantle cell lymphoma) as well as genetic abnormalities
not anticipated based on the testing indication alone. Like
a patient’s response to therapy. However, this technique
►
►
other assays, chromosome analysis is useful in monitoring
provides additional information about disease progression and
treatment-related secondary malignancies that might not be
►
apparent with a targeted genetic study (e.g., FISH alone).
Of note, chromosome analysis is limited in its resolution
as compared to most other genetic tests. Thus, for many
indications, we recommend performing concurrent chromosome
►
►
analysis and targeted FISH for the identification of clinicallyrelevant genetic changes. Our laboratory directors are
eager to discuss our current oncology test menu and our
recommended testing strategies with you at any time. In
G-banded karyotype from a bone marrow aspirate showing three copies
(trisomy) of chromosome 8, a translocation between chromosomes 9 and 22
t(9;22)(q34;q11.2) resulting in the presence of the Philadelphia chromosome,
and an isochromosome 17 resulting in loss of the tumor suppressor gene
TP53. This karyotype demonstrates the hallmark cytogenetic change observed
in chronic myelogenous leukemia [t(9;22)], as well as common secondary
abnormalities associated with this disease [+8, i(17), and +der(22)].
Newsletter | 4
addition, logistical information, including specimen requirements,
turnaround times, and shipping details, is available on our
laboratory website or by contacting our laboratory team.
Decades of Committment
The Human Genetics
CYTOGENETICS SECTION
FISH SECTION
ADMINISTRATION
Laboratory Supervisor:
Laboratory Supervisor:
Associate Directors:
Christine Higgins, BS, CG(ASCP)CM 34
Pamela Althof, MS, CG(ASCP)CM 14
Bhavana Dave, PhD, FACMG 19
tremendous loss with the
Culture Techs:
Technologists:
passing of Dr. Sanger, and
Fen-Fen Lin, BS 19
Michele Wiggins, BA, CG(ASCP)CM 17
Laboratory Managers:
Patricia Cattano, BA 18
Tom Hempel, BS, CG(ASCP)CM 14
Renée Fordyce Boyer, MS, CG(ASCP)CM 39
Yvette Rush, BS 13
Chestnut Livermore, BS, CG(ASCP)CM 11
Michelle Hess, MS, CG(ASCP)CM 35
Laboratory suffered a
we will greatly miss his
40 years of experience
our team of 66 members
foundation that Warren
MICROARRAY SECTION
Technologists:
Dianna Zaleski, BS, CG(ASCP)CM 28
proudly stands on the
Administrative Associate:
CONSTITUTIONAL STUDIES
and leadership. However,
Diane Pickering, MS, CG(ASCP)CM 26
LABORATORY SUPPORT
Kirby Anderson, BS, CG(ASCP) 27
Technologists:
Customer Support:
Ivan Kanev Stoyanov, DVM,
PhD, CG(ASCP)CM 15
Denae Golden, BS, CG(ASCP)CM 12
Francisca Rebolloso, BA, CG(ASCP)CM 35
Jadd Stevens, BA, BS, CG(ASCP)CMMBCM10
Billing Representative:
Siri Huston, BA, CG(ASCP)CM 28
CM
Abigail Haggerty, MS, CG(ASCP)CM 10
Lori Myers 25
MOLECULAR SECTION
Technologists:
Laboratory Supervisor:
cumulative 828 years of
Jana Brueggemann, BA, CG(ASCP)CM 18
Marilu Nelson, MS, CG(ASCP)CMMBCM 26
Jeff Pinnt, BS, CG(ASCP)CM 17
experience at UNMC.
Melissa Nipper, BS, CG(ASCP) 14
Technologists:
In addition, we would
Amaris Zephyr Van Dyke, BS, CG(ASCP)12
like to recogize the 36
Kimberly Tyrey 20
Laboratory Supervisor:
ONCOLOGY STUDIES
built, bringing with us a
Jennifer Sanmann, PhD, MB(ASCP)CMCGCM 10
CM
Kimberly Wiechman, MS, CG(ASCP)CM 12
Kelli Novak, BS, CG(ASCP)10
Julie Carstens, MS, CG(ASCP)CMMBCM 29
Janet Williamson, BS, MLT, CG(ASCP)CMMBCM 11
Programer / Analyst:
Rebecca Gilbert 20
Marketing Specialist:
Nicole Hackendahl, BS 13
Office Associate:
Kelly Crotty 12
Laboratory Assistant:
Bunnita Washington, CMA 12
employees who each
have 10 or more years
of dedicated service.
Panel Includes More Genes, Increasing Diagnostic Utility
Our laboratory launched an expanded
Autism / Intellectual Disability / Multiple
Anomalies Panel in November 2014. The
expansion of this panel from 86 genes to 117
genes allows for inclusion of several new
non-syndromic autism genes (e.g., CHD8 ),
as well as the addition of several genes
associated with known genetic syndromes.
The newly added genes broaden the scope of our panel
to include Coffin-Siris, Greig cephalopolysyndactyly,
Joubert, Pallister-Hall, Simpson-Golabi-Behmel, Sotoslike, and X-linked creatine deficiency syndromes. For
the complete list of genes and disorders included in
this panel, please visit our laboratory website.
Newsletter | 5
The genetic changes that result in disease come in several
different forms, including sequence-based mutations
(changes in the DNA at the base-pair level) and intragenic
deletions/duplication (copies number changes within the
gene of interest). However, due to the current limitations
of technology, both pieces of clinically-relevant information
(sequencing and deletion/duplication) cannot be obtained
from a single assay. Thus, the comprehensive panel option
on our laboratory’s test request form includes both sequence
analysis and high resolution deletion/duplication analysis of
all 117 genes. Either test (sequencing or deletion/duplication)
can be ordered separately on the test request form as well.
We are pleased to offer this expanded panel at the same
price and within the same reporting parameters as the
previous, smaller version. Please contact any of the laboratory
genetic counselors or directors if you have questions about
how this expanded panel may benefit your patients.
Human Genetics Laboratory
985440 Nebraska Medical Center
Omaha, NE 68198-5440
402.559.5070
unmc.edu/geneticslab
In this issue
1 Remembering Warren Sanger, Our Leader
Dr. Warren Sanger, beloved director of our Human Genetics Laboratory,
has passed away. Although this void is vast, we proudly promise to
continue his legacy of dedicated patient care and personalized service.
3 Hereditary Cancer Testing
Seven tissue-specific gene panels now available.
4 Chromosome Analysis for Oncology
Historical technique remains clinically useful for diagnosis and prognosis.
UNMC Human Genetics Laboratory Newsletter | 2015 vol 1
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ATTEND THE 2015
ANNUAL ACMG
MEETING?
Visit booth 831 to meet our team!
M A R C H 2 5 -2 7