Presented Abstracts from the Thirty Third Annual Education Conference of the National Society of Genetic Counselors (New Orleans, LA, September 2014)

Emily Edelman, Beverly M. Yashar, Katie Darin
2014 Journal of Genetic Counseling  
As genetic technologies have evolved, genetic testing options have proliferated which has created new challenges in the field of genetic counseling, including how to best present genetic testing choices. In some cases, client decisions about genetic testing that formerly involved deciding whether or not to undergo testing, may involve choosing from multiple tests. For example, clients may need to decide among cancer panel tests, choose between noninvasive and invasive prenatal tests, and
more » ... preferences about the return of incidental findings from whole exome sequencing tests. With more options available, decision making has become more complex and there are more ways to structure and describe choices. Additionally, research in the field of judgment and decision making has shown that subtle changes in the structure of a choice problem can have a profound impact on the choice made. As the individuals who design and present genetic testing decisions, genetic counselors have a key role as choice architects and unfortunately there is no neutral way to design a choice problem. Given this, we have a responsibility to use theory to design choices in a way that facilitates optimal medical and psychological outcomes. The objective of this presentation is to propose ways to structure genetic testing decisions by suggesting a framework for a genetic testing choice task. The framework was developed using constructs and relationships from the multidisciplinary decision making literature on how changes in the organization and description of a choice problem can influence decisions. For example, it will introduce how altering default options, the number of options, partitioning of attributes, and salience of attributes can change decision making outcomes and influence decisions. We suggest areas of future research and techniques such as discrete choice experiments to help determine which attributes of genetic testing drive decisions to build the evidence base needed to develop practice guidelines on how to present choice. Full Member Abstract Award Complications with reimbursement have limited the ability to integrate trained genetic service providers into the health care system. The specific aim of this study was to assess billing and reimbursement for genetic counseling services at a single institution in a state requiring licensure (Sanford Health, Sioux Falls, SD). Patient encounters utilizing the 96040 CPT® code from 7/31/2009 through 7/31/2013 were reviewed. This timeframe was selected based on the requirement for genetic counselors to be licensed in SD starting in July 2009. While the purpose of licensure is to protect the public, it's possible that holding a license may secondarily increase opportunities for reimbursement if an insurance company is willing to credential a licensed provider. Exclusion criteria included billing records of patients who were seen by a physician the same day of their appointment, self-pay, Medicaid, and Medicare patients. Of the 8,630 encounters with a genetic counselor, 582 encounters were eligible for review with 52.8 % receiving some level of reimbursement at an average reimbursement rate of 42.4 %. Two or more units of the 96040 code were billed for 123 encounters. Of those which received reimbursement for the first unit, 60.0 % received some level of reimbursement for the remaining units, and 25.0 % received full reimbursement for all units. A total of 31 insurance companies were billed with all but four providing some level of reimbursement. Statistical analysis confirmed Children's Hospital Colorado (CHCO) has undertaken a resource stewardship initiative aimed at providing appropriate care to patients with improved outcomes, and at a reduced cost; in essence increasing the value of healthcare for patients and the families who care for them. This initiative is hospital wide and includes all departments. From 2007 to 2010, send-out test expenses at the CHCO Laboratory increased annually at a rate of 33 %. Recognizing this as a resource stewardship opportunity, CHCO Lab embarked in 2011 on 4-pronged collaboration with all stakeholders to reduce these expenses; namely, by consolidating reference laboratories, converting miscellaneous tests to named tests, developing more in-house testing options, and focusing the utilization of send-out tests. In the fall of 2013, a test utilization management pilot project was implemented to determine if directed assistance to physicians would reduce costs without compromising patient care. Pilot tests were chosen on the basis of cost and also the frequency of orders. The options for the order, following a review by a genetic counselor were to proceed with the test as ordered, to modify the test or test strategy to a more appropriate one, or to cancel the test entirely. The pilot ran from October 7, 2013 to the end of December 2013. Overall, 123 tests were reviewed, 18 % of these were either modified or cancelled. The cost savings per test was $113. Expansion of the pilot to all tests costing over $1,000 began April 28, 2014. Additionally, new strategies for diagnostic testing have been identified and are being implemented. These include creating EMR clinical care pathways and decision support systems, diagnostic test algorithms, and in-lab mechanisms for test sequencing. Significant benefits have been realized to date and opportunities still remain for the CHCO laboratory to improve the value of expensive send-out tests with active utilization management. In an effort to improve patient experience related to billing and reimbursement a multifaceted team was convened, including Hereditary Cancer Risk Assessment Genetic Counselor (GC), Oncology Business Manager, Oncology Financial Specialist (OFS), and Oncology Reimbursement Specialist (ORS) to establish a process for genetic counseling (GC) referrals and to determine and review reimbursement for GC services in an outpatient oncology Abstracts from the 33rd NSGC Annual Education Conference 1069 clinic. A work flow process was developed. The referring provider enters a GC consult order in the electronic medical record, the order is routed to the OFS who contacts the patient's insurance for preauthorization and predetermination of benefits, and then the oncology department clerical team contacts the patient to schedule. Current billing practices at our institution include billing CPT 96040 as a facility charge, on a UB-04, utilizing the entity's tax ID. Following the GC consultation, the ORS reviewed each Explanation of Benefits (EOB) to determine the submitted charge less the contractual obligation in order to determine the allowed amount. A total of 153 claims were reviewed from a 9 month period (March 2013-November 2013). 111 of the claims accounted for 13 private commercial insurance payors. 8 payors had 2 or more claims and were included in the reimbursement analysis; 5 were excluded due to a being single claim. All state and federal payors (Medicare/ Medicaid) were excluded for the purposes of this analysis. Payors included in the analysis are noted as A-H with the following reimbursement represented as a percentage of the submitted charge. Company A 62 %, Company B 38 %, Company C 24 %, Company D 49 %, Company E 37 %, Company F 0 %, Company G 31 %, Company H 55 %. We are receiving reimbursement from 7/8 companies analyzed and 3 are reimbursing at 49 % or higher. Our review has determined that successful avenues for billing 96040 can be implemented. Cancer As the use of diagnostic exome sequencing (DES) becomes more commonly integrated into the field of medical genetics, referral indications for DES will continue to expand. DES has been successful in providing an answer for 30-40 % of patients with undiagnosed Mendelian disorders and has the ability to identify novel genes not previously associated with human disease, including in cases of patients with cancer-related presentations. A retrospective analysis of the first 500 patients referred to our laboratory for DES testing revealed a total of 15 (3 %) patients with reported cancer-related clinical presentations. Of these 15 patients, at total of 4 (26.7 %) probands were found to have disease-causing alterations. Of these 4 patients, 1 (6.6 %) was positive for a mutation in a characterized gene WNT10A, a known gene not traditionally associated with cancer predisposition, while in 3 (20 %) likely pathogenic alterations were reported in novel genes (RAD54L (2 cases) and ETV6). The patient with the ETV6 alteration was also found to have an uncertain ARHGAP11A alteration, a gene which functions to stabilize p53. The 3 patients with novel gene findings presented with early-onset leukemia (<2yo), paraganglioma-pheochromocytoma, and clear cell kidney cancer respectively. These cases also presented with other non-cancer related syndromic features, including alopecia, hyperpigmented skin lesions, high arched palate, anomalous dentition, and others. All of the patients with cancer phenotypes and a positive novel gene finding had previously tested negative for multiple single gene and/ or panel tests. This data suggests that the use of DES is a valuable and effective diagnostic testing option for the identification of both characterized and novel gene mutations in patients presenting with unique cancer phenotypes, including non-cancer related features, especially when other testing options have been exhausted. In addition, our data shows that novel gene findings were significantly more likely among patients with cancer-phenotypes than among other indications for testing. This is the first prospective study to determine the frequency of BRCA1 and BRCA2 germline mutations in an unselected series of patients with pancreatic ductal adenocarcinoma (PDAC). Patients with histologically or clinically confirmed PDAC were approached at a single cancer center to enroll in the IRB-approved Ontario Pancreas Cancer Study. Patients provided informed consent and cancer family history data was obtained. Blood was collected and analyzed by Sanger sequencing and MLPA for germline variants in BRCA1 and BRCA2. Pathogenic germline mutations were identified in 14/307 (4.6 %) of unselected incident PDACs. BRCA1 mutations accounted for 1 % (3/307) of the cases and BRCA2 for 3.6 % (11/307). Average age of PDAC diagnosis was not significantly different between the BRCA mutation positive and negative cases, 62 years (42-78) and 65 years (27-91), respectively. Approximately 50 % of each group was female. Ashkenazi Jewish ancestry accounted for 28 % of the mutation carriers and 11 % of the non-carriers. PDAC in another relative was reported in 11 % of the negative cases and 20 % of the positive cases (not significant). A personal history of previous primary cancer was significantly associated with BRCA mutation positivity; 50 % in positive and 19 % in negative (p=0.007). A family history of breast and/or ovarian cancer was reported in 43 % of the BRCA positive cases and 13 % in the BRCA negative cases, this was statistically significant (p= 0.005). In both groups, 1/3 of those with a family history of breast and/or ovarian cancer did not meet provincial guidelines to warrant BRCA analysis. Previous studies of BRCA mutations in PDAC have been limited to retrospective case series and incomplete germline analysis. Our study shows that germline BRCA mutations account for a significant proportion of PDAC, regardless of family history of breast and/or ovarian cancer. Increased identification of PDAC patients with germline BRCA mutations may allow for tailored chemotherapy through the use of platinum agents or PARP inhibitors.
doi:10.1007/s10897-014-9778-4 fatcat:lqx3ok2o7vadbf7k6p5ggzwq6y