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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. 1 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. 2 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. 3 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 4 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 5 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 6 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. . ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 7 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 8 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 9 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 ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 10 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 10 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. ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 11 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 12 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. 13 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. 14 Utilizing the Laboratory Genetic Counselor to Maximize Patient Care ©2015 Mayo Foundation for Medical Education and Research. All rights resevered. 6/8/2015