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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Welcome to Mayo Medical Laboratories Profiles in Genetics. These presentations
provide short discussion of current genetics topics and may be helpful to you in your
practice.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Our speaker for this program is Angela Pickart, MS, CGC, a Genetic Counselor in the
Molecular Genetics Laboratory at Mayo Clinic, Rochester, Minnesota. In this
presentation, Angela discusses the various ways in which a genetic counselor can
impact test selection, result interpretation, and optimize patient care.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Thank you for the introduction. I have no disclosures to report.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Today I will discuss the role of laboratory genetic counselors and how genetic
counselors in the laboratory setting can help enhance patient care. Genetic testing has
become more and more pervasive in clinical care. It is both complex and expensive.
This presentation will provide specific examples of how involving the laboratory genetic
counselor can result in cost savings and improved patient care.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
The use of genetic testing is expanding at a tremendous rate. Per the GeneTests
website, a database of available genetic and biochemical tests from various genetic
testing companies, there are 44,010 tests for 4,214 genetic conditions currently listed.
Genetic testing can be utilized for a wide variety of indications such as the diagnosis of
an underlying genetic condition, carrier screening for reproductive risk assessment,
cancer risk assessment for those both affected and unaffected by cancer, and predictive
genetic testing for the future development of disease. It is a valuable tool for health
care providers and is utilized in virtually every health care subspecialty.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Genetic counselors are Master’s prepared health care professionals who have extensive
training in genetics and psychosocial counseling. Historically, genetic counselors have
primarily worked in the hospital and clinical setting providing direct care to pediatric,
prenatal and cancer patients. The skill set of genetic counselors has been identified to
be useful in a wide variety of other areas and genetic counselors are filling roles in
other settings such as the clinical or research laboratory. The genetic counselor’s ability
to both understand and effectively communicate complex genetic information are ideal
in the laboratory setting.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Genetic counselors have a variety of roles in the laboratory. Their primary role is to act
as liaisons between clinical and laboratory personnel. Genetic counselors review data
regarding incoming specimens to assess for test appropriateness, communicate with
ordering providers regarding any test-related questions, and assist in interpreting test
results and writing genetic testing reports. Mayo Clinic has genetic counselors in a
variety of laboratories including Molecular Genetics, Biochemical Genetics,
Cytogenetics, Personalized Medicine, Endocrine Genetics, and Hematopathology.
.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
appropriateness. This is a key role that not only results in significant cost savings, but
enhanced patient care. Genetic counselor review for test appropriateness is helpful as
the complexities of genetic testing options increase. Testing for any given genetic
condition can often be accomplished in a variety of different ways and it can be difficult
to identify the best option without an extensive background in genetics. Performing the
appropriate test is essential to quality patient care and management. For example, a
negative test result could result in false reassurance if the incorrect genetic test was
ordered. In some cases, this could mean that appropriate care was not pursued such as
potentially lifesaving cancer screening.
Genetic testing is expensive and insuring the most appropriate testing is ordered can
result in significant health care savings. A report by United Healthcare in 2012 found
that $500 million dollars were spent on genetic testing for United Healthcare members
in 2010 and they forecasted that national spending on genetic testing could be as high
as $15 to $25 billion dollars by 2021. In addition, today’s health care consumers are
more aware of health care costs and any unnecessary costs result in significant patient
dissatisfaction.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
The impact of the genetic counselor role in test utilization was studied at Mayo Clinic
by Kotzer et al. In a 3-month review, 5,504 genetic test orders were reviewed and 8% of
orders required revision. The authors conservatively estimated total cost savings from
this review and subsequent order changes to be close to $195, 000, which
corresponded to almost $778,000 annually.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
I will now review some specific examples of how a genetic counselor’s review of
incoming test orders can result in cost savings. It is not uncommon to identify that an
incorrect test has been ordered. One of the most common incorrect test orders we
encounter involves whether known mutation analysis or full gene analysis is indicated.
Known mutation analysis is appropriate when there is a family history of the disorder in
question and a specific gene mutation has been identified in a family member. If the
family member has a specific gene mutation, it is only necessary to analyze the portion
of the gene where the familial mutation resides. This is far more cost effective than full
gene analysis. We will often identify that full gene analysis has been ordered when
there is a documented family history and a known gene mutation. In this case, the
order can be changed to known mutation analysis resulting in a cost savings of multiple
hundreds of dollars. The opposite scenario is commonly encountered as well, and
known mutation analysis is ordered when there is no family history and full gene
analysis is indicated.
The genetic counselor is also able to use their clinical skills and knowledge regarding
genetic conditions to identify mistaken orders. For example, we may encounter that a
woman of reproductive age may have testing for spinal bulbar muscular atrophy
ordered. Spinal bulbar muscular atrophy is a neurological disease that often affects
men between the ages of 30 and 50. Many times this testing has been ordered
erroneously and the ordering physician intended to order carrier screening to assess
reproductive risks for spinal muscular atrophy, a common recessive genetic disorder.
Another example involves testing for different forms of porphyria. Acute intermittent
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
porphyria (AIP) is due to a deficiency of the enzyme uroporphyrinogen I synthetase and
congenital erythropoietic porphyria (CEP) is due to reduced activity of
uroporphyrinogen III synthetase. AIP and CEP have different clinical phenotypes, but the
similarities in the name of the disorder and affected enzyme lend to frequent
misordering.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Genetic counselors are also able to identify duplicate orders. Genetic testing rarely
would need to be repeated in one’s lifetime. Identifying that the same testing was
completed previously, perhaps ordered by another provider unbeknownst to the
current provider, and does not need to be duplicated results in cost savings. In addition,
there may be circumstances when different tests can provide the same result and it is
unnecessary to perform both tests. An example of this is concurrent 22q FISH analysis
and array comparative genomic hybridization testing. Both tests will determine if a
deletion consistent with 22q deletion syndrome (also known as velocardiofacial
syndrome or DiGeorge syndrome) is present and both tests are not needed. The FISH
analysis is less expensive and this could be pursued if the patient’s phenotype is
strongly consistent with 22q deletion syndrome. If the patient’s phenotype could be
seen with a variety of different chromosomal microdeletion syndromes, it would be
more appropriate to pursue the array comparative genomic hybridization analysis to
screen for both 22q deletion syndrome and all other microdeletion/microduplication
syndromes at the same time.
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Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
The laboratory genetic counselors can also assist in test selection. At times, there may
be a better test option available that is more cost effective or more appropriate based
on a patient’s clinical history or an individual’s family history. For example, a patient
may have separate orders for the Lynch syndrome genes, MLH1, MSH2, MSH6, and
PMS2. Lynch syndrome is the most common cause of hereditary colorectal cancer. In
discussing the case further with the ordering provider, the genetic counselor may learn
that the family history is not specific to Lynch syndrome and the constellation of
cancers in the family could be consistent with other hereditary colon cancer
syndromes, such as Cowden syndrome, a cancer predisposition syndrome associated
with hamartomatous colon polyps, colon cancer, breast cancer, and a variety of other
cancerous and noncancerous tumors. In this case, the Hereditary Colon Cancer Panel
(HCCP) would allow for analysis of 17 genes implicated in hereditary colon cancer,
including the Lynch syndrome genes. As the HCCP test uses next-generation sequencing
technology, it is also more cost effective than the combined cost of the MLH1, MSH2,
MSH6, and PMS2 analyses. Genetic counselors can also help ordering providers
navigate complex testing algorithms. Using Lynch syndrome as an example again, a
patient with colon cancer may benefit first from testing on a tumor specimen, called
microsatellite instability (MSI) and immunohistochemistry analysis (IHC). The MSI
studies would demonstrate if the tumor has the characteristic instability associated
with Lynch syndrome and the immunohistochemistry results can help direct which gene
to test first of the 4 Lynch syndrome genes. Following such an algorithm can result in
cost savings.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
12
Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
6/8/2015
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
Genetic counselors can also help maximize patient care as a direct resource for
questions and concerns for ordering providers. Genetic counselors are available each
day and are easily accessed by pager. They can assist with questions regarding the
interpretation of test results and can provide further explanation for any unusual
results, such as a genomic variant of uncertain clinical significance (VUS). Genetic
counselors can explain the available data that may suggest such a variant is more likely
a deleterious mutation or more likely a benign polymorphism. They can also review
options to better clarify results such as testing of other family members to determine if
the variant segregates with disease or not.
The genetic counselors can also provide recommendations for any follow-up analyses
that may be indicated. For example, familial adenomatous polyposis (FAP) and MYHassociated polyposis have very similar clinical phenotypes. Often times, if FAP testing
does not explain a patient’s symptoms, MYH testing would be appropriate. Given our
broad knowledge of genetic conditions, the genetic counselors can be a resource for
information regarding the clinical aspects of various genetic conditions, inheritance
patterns, and implications for at-risk family members. The genetic counselors can also
direct providers to local genetics professionals in their area as needed.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
6/8/2015
In summary, I hope this presentation has highlighted the ways laboratory genetic
counselors can assist you in the care of patients. Please utilize the laboratory genetic
counselors at Mayo Medical Laboratories as a resource for test selection and
information. We would be happy to assist you.
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
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Utilizing the Laboratory Genetic Counselor to
Maximize Patient Care
©2015 Mayo Foundation for Medical
Education and Research. All rights resevered.
6/8/2015