Publications by authors named "Shanna L Gustafson"

8 Publications

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Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individuals.

Fam Cancer 2015 Mar;14(1):167-74

Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, 300 North Ingalls SPC 5419, NI3 A08, Ann Arbor, MI, 48109, USA,

Genetic testing (GT) for inherited cancer predisposition is most informative when initiated in individuals with cancer, thus standard practice recommends GT start in an affected individual. This strategy can be frustrating for unaffected consultands and providers. Retrospective review of cases was performed to compare outcomes of testing the unaffected consultand and recommending that testing start in an affected relative. Records from cancer-free consultands (N = 101), presenting to the University of Michigan Cancer Genetics Clinic between 6/1/2011 and 12/30/2011 were reviewed. All genetics records for these consultands were reviewed through 3/31/2013 for GT recommendations (117 total). The unaffected consultand was offered testing in 14.5 % of cases, testing was completed in 64.7 % of these with one mutation identified. Of consultands tested initially, 70.5 % received cancer-screening recommendations based on family history and test results. Testing was recommended to start in an affected family member in 30.7 % of cases. Fifty percent returned to clinic with information on an affected family member; 83.3 % documented that their family member underwent GT with one mutation identified. Consultands reported the affected family member refused testing in 22.2 % and two of these consultands subsequently pursued GT, identifying one mutation. Fifty percent of cases where testing the family member first was recommended were lost to follow-up with 66.6 % of these never given cancer-screening recommendations. Cancer genetic risk evaluation of healthy consultands should consider the option of pursuing GT in the unaffected consultand and should implement a plan for tailored risk management in the absence of informative genetic evaluation within the family.
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http://dx.doi.org/10.1007/s10689-014-9756-xDOI Listing
March 2015

Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

JAMA Dermatol 2014 Dec;150(12):1315-21

IMPORTANCE Sebaceous neoplasms (SNs) define the Muir-Torre syndrome variant of Lynch syndrome (LS), which is associated with increased risk for colon and other cancers necessitating earlier and more frequent screening to reduce morbidity and mortality.Immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in SNs can be used to screen for LS, but data on subsequent germline genetic testing to confirm LS diagnosis are limited.OBJECTIVE To characterize the utility of IHC screening of SNs in identification of germline MMR mutations confirming LS.DESIGN, SETTING, AND PARTICIPANTS Retrospective study at 2 academic cancer centers of 86 adult patients referred for clinical genetics evaluation after diagnosis of SN.MAIN OUTCOMES AND MEASURES Results of tumor IHC testing and germline genetic testing were reviewed to determine positive predictive value and sensitivity of IHC testing in diagnosis of LS. Clinical variables, including age at diagnosis of SN, clinical diagnostic criteria for LS and Muir-Torre syndrome, and family history characteristics were compared between mutation carriers and noncarriers.RESULTS Of 86 patients with SNs, 25 (29%) had germline MMR mutations confirming LS.Among 77 patients with IHC testing on SNs, 38 (49%) had loss of staining of 1 or more MMR proteins and 14 had germline MMR mutations. Immunohistochemical analysis correctly identified 13 of 16 MMR mutation carriers, corresponding to 81% sensitivity. Ten of 12 patients(83%) with more than 1 SN had MMR mutations. Fifty-two percent of MMR mutation carriers did not meet clinical diagnostic criteria for LS, and 11 of 25 (44%) did not meet the clinical definition of Muir-Torre syndrome. CONCLUSIONS AND RELEVANCE Immunohistochemical screening of SNs is effective in identifying patients with germline MMR mutations and can be used as a first-line test when LSis suspected. Abnormal IHC results, including absence of MSH2, are not diagnostic of LS and should be interpreted cautiously in conjunction with family history and germline genetic testing. Use of family history to select patients for IHC screening has substantial limitations,suggesting that universal IHC screening of SNs merits further study. Clinical genetics evaluation is warranted for patients with abnormal IHC test results, normal IHC test results with personal or family history of other LS-associated neoplasms, and/or multiple SNs.
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http://dx.doi.org/10.1001/jamadermatol.2014.1217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977578PMC
December 2014

Traditional roles in a non-traditional setting: genetic counseling in precision oncology.

J Genet Couns 2014 Aug 1;23(4):655-60. Epub 2014 Mar 1.

Department of Internal Medicine, University of Michigan, 300 North Ingalls, NI3A16, Ann Arbor, MI, 48109, USA,

Next generation sequencing technology is increasingly utilized in oncology with the goal of targeting therapeutics to improve response and reduce side effects. Interpretation of tumor mutations requires sequencing of paired germline DNA, raising questions about incidental germline findings. We describe our experiences as part of a research team implementing a protocol for whole genome sequencing (WGS) of tumors and paired germline DNA known as the Michigan Oncology Sequencing project (MI-ONCOSEQ) that includes options for receiving incidental germline findings. Genetic counselors (GCs) discuss options for return of results with patients during the informed consent process and document family histories. GCs also review germline findings and actively participate in the multi-disciplinary Precision Medicine Tumor Board (PMTB), providing clinical context for interpretation of germline results and making recommendations about disclosure of germline findings. GCs have encountered ethical and counseling challenges with participants, described here. Although GCs have not been traditionally involved in molecular testing of tumors, our experiences with MI-ONCOSEQ demonstrate that GCs have important applicable skills to contribute to multi-disciplinary care teams implementing precision oncology. Broader use of WGS in oncology treatment decision making and American College of Medical Genetics and Genomics (ACMG) recommendations for active interrogation of germline tissue in tumor-normal dyads suggests that GCs will have future opportunities in this area outside of research settings.
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http://dx.doi.org/10.1007/s10897-014-9698-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096055PMC
August 2014

Adrenocortical carcinoma is a lynch syndrome-associated cancer.

J Clin Oncol 2013 Aug 22;31(24):3012-8. Epub 2013 Jul 22.

University of Michigan, Ann Arbor, MI, USA.

Purpose: Adrenocortical carcinoma (ACC) is an endocrine malignancy with a poor prognosis. The association of adult-onset ACC with inherited cancer predisposition syndromes is poorly understood. Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC.

Patients And Methods: One hundred fourteen patients with ACC were evaluated in a specialized endocrine oncology clinic and were prospectively offered genetic counseling and clinical genetics risk assessment (group 1). In addition, families with known mismatch repair (MMR) gene mutations that were recorded in the University of Michigan Cancer Genetics Registry were retrospectively reviewed for the presence of ACC (group 2). ACC tumors from patients with LS were tested for microsatellite instability and immunohistochemistry (IHC) to evaluate for MMR deficiency.

Results: Ninety-four (82.5%) of 114 patients with ACC underwent genetic counseling (group 1). Three individuals (3.2%) had family histories suggestive of LS. All three families were found to have MMR gene mutations. Retrospective review of an additional 135 MMR gene-positive probands identified two with ACC (group 2). Four ACC tumors were available (group 1, 3; group 2, 1). All four tumors were microsatellite stable; three had IHC staining patterns consistent with germline mutation status.

Conclusion: The prevalence of LS among patients with ACC is 3.2%, which is comparable to the prevalence of LS in colorectal and endometrial cancer. Patients with ACC and a personal or family history of LS tumors should be strongly considered for genetic risk assessment. IHC screening of all ACC tumors may be an effective strategy for identifying patients with LS.
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http://dx.doi.org/10.1200/JCO.2012.48.0988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739861PMC
August 2013

Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force.

J Genet Couns 2013 Aug 25;22(4):411-21. Epub 2013 Apr 25.

Cancer Genetics Risk Assessment Program, St. Vincent Hospital, 8301 Harcourt Rd #100, Indianapolis, IN 46260, USA.

Increasing demand for genetic services has resulted in the need to evaluate current service delivery models (SDMs) and consider approaches that improve access to and efficiency of genetic counseling (GC). This study aimed to describe SDMs currently used by the GC community. The NSGC membership was surveyed regarding the use of four SDMs: in-person GC, telephone GC, group GC, and telegenetics GC. Variables related to access and components of use were also surveyed, including: appointment availability, time-per-patient, number of patients seen, billing, and geographic accessiblity. Seven hundred one usable responses were received. Of these, 54.7 % reported using an in-person SDM exclusively. The remainder (45.3 %) reported using multiple SDMs. Telephone, group and telegenetics GC were used often or always by 8.0 %, 3.2 % and 2.2 % of respondents, respectively. Those using an in-person SDM reported the ability to see the highest number of patients per week (p < 0.0001) and were the most likely to bill in some manner (p < 0.0001). Those using telegenetic and telephone GC served patients who lived the furthest away, with 48.3 % and 35.8 %% respectively providing GC to patients who live >4 h away. This study shows that genetic counselors are incorporating SDMs other than traditional in-person genetic counseling, and are utilizing more than one model. These adaptations show a trend toward shorter wait time and shorter length of appointments. Further study is indicated to analyze benefits and limitations of each individual model and factors influencing the choice to adopt particular models into practice.
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http://dx.doi.org/10.1007/s10897-013-9588-0DOI Listing
August 2013

Report from the National Society of Genetic Counselors service delivery model task force: a proposal to define models, components, and modes of referral.

J Genet Couns 2012 Oct 8;21(5):645-51. Epub 2012 May 8.

Cancer Genetics Risk Assessment Program, St. Vincent Hospital, Indianapolis, IN 46260, USA.

The Service Delivery Model Task Force (SDMTF) was appointed in 2009 by the leadership of the National Society of Genetic Counselors (NSGC) with a charge to research and assess the capacity of all existing service delivery models to improve access to genetic counseling services in the context of increasing demand for genetic testing and counseling. In approaching this charge, the SDMTF found that there were varying interpretations of what was meant by "service delivery models" and the group held extensive discussions about current practices to arrive at consensus of proposed definitions for current genetic service delivery models, modes of referral and components of service delivery. The major goal of these proposed definitions is to allow for conversations to begin to address the charge to the committee. We propose that current models of service delivery can be defined by: 1) the methods in which genetic counseling services are delivered (In-person, Telephone, Group and Telegenetics), 2) the way they are accessed by patients (Traditional referral, Tandem, Triage, Rescue and Self-referral) and 3) the variable components that depend upon multiple factors unique to each service setting. This report by the SDMTF provides a starting point whereby standardized terminology can be used in future studies that assess the effectiveness of these described models to overcome barriers to access to genetic counseling services.
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http://dx.doi.org/10.1007/s10897-012-9505-yDOI Listing
October 2012

A large health system's approach to utilization of the genetic counselor CPT® 96040 code.

Genet Med 2011 Dec;13(12):1011-4

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Ohio 44195, USA.

Purpose: : In 2007, CPT® code 96040 was approved for genetic counseling services provided by nonphysician providers. Because of professional recognition and licensure limitations, experiences in direct billing by genetic counselors for these services are limited. A minority of genetics clinics report using this code because of limitations, including perceived denial of the code and confusion regarding compliant use of this code. We present results of our approach to 96040 billing for genetic counseling services under a supervising physicians National Provider ID number in a strategy for integration of genetics services within nongenetics specialty departments of a large academic medical center.

Methods: : The 96040 billing encounters were tracked for a 14-month period and analyzed for reimbursement by private payers. Association of denial by diagnosis code or specialty of genetics service was statistically analyzed. Descriptive data regarding appointment availability are also summarized.

Results: : Of 350 encounters January 2008 to February 2009, 289 (82%) were billed to private payers. Of these, 62.6% received some level of reimbursement. No association was seen for denial when analyzed by the diagnosis code or by genetics focus. Through this model, genetics appointment availability minimally doubled.

Conclusion: : Using 96040 allowed for expanding access to genetics services, increased appointment availability, and was successful in obtaining reimbursement for more than half of encounters billed.
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http://dx.doi.org/10.1097/GIM.0b013e3182296344DOI Listing
December 2011

Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease.

Genet Med 2007 May;9(5):303-10

Genetic Counseling Program, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Purpose: The Health Belief Model can help in understanding low acceptance of disease prevention and screening. We studied health beliefs of African American women to determine causes of low acceptance of genetic testing and counseling despite high prevalence of sickle cell disease and heterozygotes in this population.

Methods: An anonymous questionnaire using a 12-question measure with a 5-point Likert scale response was administered to 101 African American women attending an obstetrics and gynecology clinic to determine knowledge of sickle cell disease, perception of risk, severity, likelihood of benefit and barriers to counseling.

Results: The cumulative mean perceived scores on the 5-point Likert scale were 4.22 +/- 0.88 for severity of sickle cell disease, 4.10 +/- 1.03 for benefit of genetic testing, 2.28 +/- 1.00 for barriers to testing, and 2.62 +/- 1.06 for risk of having a child with sickle cell disease. High average level knowledge was associated with high perception of severity and benefit to screening (P < 0.05).

Conclusion: African American women have a relatively high belief of the severity of sickle cell disease and benefits of genetic counseling but frequently do not appear to believe that they are at risk of having a child with the disease. This should be taken into account in the design of educational and counseling strategies.
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http://dx.doi.org/10.1097/gim.0b013e3180534282DOI Listing
May 2007