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4. Perspectives on Spanish language concordant cancer genetic counseling sessions from the Spanish‐speaking population.

Author

Jimenez, Sharisse, Matthews, Anne, Darrah, Rebecca, Schreiber, Allison, Ricker, Charité, and Wolfe Schneider, Kami

Abstract

Genetic counselors (GCs) provide risk assessment, education, and counseling about the genetic contribution to disease. To do so, they must effectively communicate, build rapport, and help patients make the best decisions for themselves and their families. Language barriers add a complex layer to this patient‐provider dynamic. While interpreters serve as a primary solution when a patient and GC speak different languages, issues have been documented with these sessions, such as misinterpreted genetic terminology (Gutierrez et al., 2017). Having a GC with concordant language skills may help address these barriers. The purpose of this study was to assess Spanish‐speaking patients' perspectives on communication, decision‐making, and the interpersonal relationship developed with a bilingual GC in language concordant cancer genetic counseling sessions. Spanish‐speaking patients, ages 18 or older, seen by a Spanish‐speaking GC at a California public, safety‐net hospital were eligible to participate in this study. Nine participants were interviewed via telephone by the bilingual researcher using a semi‐structured interview guide to assess three domains: communication, decision‐making, and interpersonal relationship. Analyses of interview transcripts identified themes within these three areas of focus: (1) participants felt all explanations were clear and they were not afraid to ask questions in the session, (2) participants experienced preference‐concordant decision making, and (3) participants felt empowered and supported by the GC. Participants suggested that GCs working with Spanish‐speaking patients in the future should consider group counseling sessions, engaging in outreach efforts to educate the Spanish‐speaking community about genetics, and increasing the number of GCs who speak Spanish. These results demonstrate the positive experiences of Spanish‐speaking patients in language concordant cancer genetic counseling sessions and further support the need for recruitment of Spanish‐speaking individuals into the profession. Future research should further assess the experience of Spanish‐speaking patients in language concordant sessions and address the role of cultural concordance in sessions. [ABSTRACT FROM AUTHOR]

Published
2023
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7. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Author

Aronson, Melyssa, primary, Colas, Chrystelle, additional, Shuen, Andrew, additional, Hampel, Heather, additional, Foulkes, William D, additional, Baris Feldman, Hagit, additional, Goldberg, Yael, additional, Muleris, Martine, additional, Wolfe Schneider, Kami, additional, McGee, Rose B, additional, Jasperson, Kory, additional, Rangaswami, Arun, additional, Brugieres, Laurence, additional, and Tabori, Uri, additional

Published
2021
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8. Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors

Author

Channaoui, Nadine, primary, Khan, Ambreen, additional, Wiesman, Chana, additional, Bui, Kara, additional, Cunningham, Mitch, additional, Brown, Kaitlyn, additional, Wolfe Schneider, Kami, additional, Platt, Kristal, additional, Hodges, Priscila Delgado, additional, Thompson, Nicole, additional, Haas, Bruce, additional, Strang, Katie, additional, Carey, Meghan, additional, Ramos, Erica, additional, Arjunan, Aishwarya, additional, and Platt, Julia, additional

Published
2020
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9. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Shuen, Andrew Y, Lanni, Stella, Panigrahi, Gagan B, Edwards, Melissa, Yu, Lisa, Campbell, Brittany B, Mandel, Ariane, Zhang, Cindy, Zhukova, Nataliya, Alharbi, Musa, Bernstein, Mark, Bowers, Daniel C, Carroll, Sara, Cole, Kristina A, Constantini, Shlomi, Crooks, Bruce, Dvir, Rina, Farah, Roula, Hijiya, Nobuko, George, Ben, Laetsch, Theodore W, Larouche, Valerie, Lindhorst, Scott, Luiten, Rebecca C, Magimairajan, Vanan, Mason, Gary, Mason, Warren, Mordechai, Oz, Mushtaq, Naureen, Nicholas, Garth, Oren, Michael, Palma, Laura, Pedroza, Luis Alberto, Ramdas, Jagadeesh, Samuel, David, Wolfe Schneider, Kami, Seeley, Andrea, Semotiuk, Kara, Shamvil, Ashraf, Sumerauer, David, Toledano, Helen, Tomboc, Patrick, Wierman, Margaret, Van Damme, An, Lee, Yi-Yen, Zapotocky, Michal, Bouffet, Eric, Durno, Carol, Aronson, Melyssa, Gallinger, Steve, Foulkes, William D, Malkin, David, Tabori, Uri, Pearson, Christopher E, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Shuen, Andrew Y, Lanni, Stella, Panigrahi, Gagan B, Edwards, Melissa, Yu, Lisa, Campbell, Brittany B, Mandel, Ariane, Zhang, Cindy, Zhukova, Nataliya, Alharbi, Musa, Bernstein, Mark, Bowers, Daniel C, Carroll, Sara, Cole, Kristina A, Constantini, Shlomi, Crooks, Bruce, Dvir, Rina, Farah, Roula, Hijiya, Nobuko, George, Ben, Laetsch, Theodore W, Larouche, Valerie, Lindhorst, Scott, Luiten, Rebecca C, Magimairajan, Vanan, Mason, Gary, Mason, Warren, Mordechai, Oz, Mushtaq, Naureen, Nicholas, Garth, Oren, Michael, Palma, Laura, Pedroza, Luis Alberto, Ramdas, Jagadeesh, Samuel, David, Wolfe Schneider, Kami, Seeley, Andrea, Semotiuk, Kara, Shamvil, Ashraf, Sumerauer, David, Toledano, Helen, Tomboc, Patrick, Wierman, Margaret, Van Damme, An, Lee, Yi-Yen, Zapotocky, Michal, Bouffet, Eric, Durno, Carol, Aronson, Melyssa, Gallinger, Steve, Foulkes, William D, Malkin, David, Tabori, Uri, and Pearson, Christopher E

Abstract

PURPOSE: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment. As genetic diagnosis is confounded by 15 or more pseudogenes and variants of uncertain significance, a robust diagnostic assay is urgently needed. We sought to determine whether an assay that directly measures MMR activity could accurately diagnose CMMRD. PATIENTS AND METHODS: In vitro MMR activity was quantified using a 3'-nicked G-T mismatched DNA substrate, which requires MSH2-MSH6 and MLH1-PMS2 for repair. We quantified MMR activity from 20 Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with confirmed CMMRD. We also tested 20 lymphoblastoid cell lines from patients who were suspected for CMMRD. We also characterized MMR activity from patients with neurofibromatosis type 1, Li-Fraumeni syndrome, polymerase proofreading-associated cancer syndrome, and Lynch syndrome. RESULTS: All CMMRD cell lines had low MMR activity (n = 20; mean, 4.14 ± 1.56%) relative to controls (n = 6; mean, 44.00 ± 8.65%; P < .001). Repair was restored by complementation with the missing protein, which confirmed MMR deficiency. All cases of patients with suspected CMMRD were accurately diagnosed. Individuals with Lynch syndrome (n = 28), neurofibromatosis type 1 (n = 5), Li-Fraumeni syndrome (n = 5), and polymerase proofreading-associated cancer syndrome (n = 3) had MMR activity that was comparable to controls. To accelerate testing, we measured MMR activity directly from fresh lymphocytes, which yielded results in 8 days. CONCLUSION: On the basis of the current data set, the in vitro G-T repair assay was able to diagnose CMMRD with 100% specificity and sensitivity. Rapid diagnosis before surgery in non-neoplastic tissues could speed proper therapeutic management.

Published
2019

10. Is polycystic kidney disease associated with malignancy in children?

Author

Friend, Brian D, Friend, Brian D, Wolfe Schneider, Kami, Garrington, Timothy, Truscott, Laurel, Martinez-Agosto, Julian A, Venick, Robert S, Tsai Chambers, Eileen, Weng, Patricia, Farmer, Douglas G, Chang, Vivian Y, Federman, Noah, Friend, Brian D, Friend, Brian D, Wolfe Schneider, Kami, Garrington, Timothy, Truscott, Laurel, Martinez-Agosto, Julian A, Venick, Robert S, Tsai Chambers, Eileen, Weng, Patricia, Farmer, Douglas G, Chang, Vivian Y, and Federman, Noah

Abstract

BackgroundPolycystic kidney disease (PKD) is an inherited condition characterized by progressive development of end-stage renal disease, hypertension, hepatic fibrosis, and cysts in the kidney, liver, pancreas, spleen, thyroid, and epididymis. While malignancies have been reported in association with PKD in adults, the incidence of malignancies in children with PKD is not currently known.MethodsWe report on five patients with a known history of PKD who developed a malignancy as children at the University of California, Los Angeles and the University of Colorado Anschutz Medical Campus. Patients were included from 2012 to 2017.ResultsWe present five patients with a history of PKD diagnosed with a malignancy during childhood without any additional known mutations to suggest a genetic predisposition to develop cancer. This includes the first reported case of hepatocellular carcinoma in a patient with autosomal recessive polycystic kidney disease.ConclusionOur report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship.

Published
2019

11. Is polycystic kidney disease associated with malignancy in children?

Author

Friend, Brian D., primary, Wolfe Schneider, Kami, additional, Garrington, Timothy, additional, Truscott, Laurel, additional, Martinez‐Agosto, Julian A., additional, Venick, Robert S., additional, Tsai Chambers, Eileen, additional, Weng, Patricia, additional, Farmer, Douglas G., additional, Chang, Vivian Y., additional, and Federman, Noah, additional

Published
2019
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12. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue

Author

Shuen, Andrew Y., primary, Lanni, Stella, additional, Panigrahi, Gagan B., additional, Edwards, Melissa, additional, Yu, Lisa, additional, Campbell, Brittany B., additional, Mandel, Ariane, additional, Zhang, Cindy, additional, Zhukova, Nataliya, additional, Alharbi, Musa, additional, Bernstein, Mark, additional, Bowers, Daniel C., additional, Carroll, Sara, additional, Cole, Kristina A., additional, Constantini, Shlomi, additional, Crooks, Bruce, additional, Dvir, Rina, additional, Farah, Roula, additional, Hijiya, Nobuko, additional, George, Ben, additional, Laetsch, Theodore W., additional, Larouche, Valerie, additional, Lindhorst, Scott, additional, Luiten, Rebecca C., additional, Magimairajan, Vanan, additional, Mason, Gary, additional, Mason, Warren, additional, Mordechai, Oz, additional, Mushtaq, Naureen, additional, Nicholas, Garth, additional, Oren, Michael, additional, Palma, Laura, additional, Pedroza, Luis Alberto, additional, Ramdas, Jagadeesh, additional, Samuel, David, additional, Wolfe Schneider, Kami, additional, Seeley, Andrea, additional, Semotiuk, Kara, additional, Shamvil, Ashraf, additional, Sumerauer, David, additional, Toledano, Helen, additional, Tomboc, Patrick, additional, Wierman, Margaret, additional, Van Damme, An, additional, Lee, Yi-Yen, additional, Zapotocky, Michal, additional, Bouffet, Eric, additional, Durno, Carol, additional, Aronson, Melyssa, additional, Gallinger, Steve, additional, Foulkes, William D., additional, Malkin, David, additional, Tabori, Uri, additional, and Pearson, Christopher E., additional

Published
2019
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13. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Author

Aronson, Melyssa, Colas, Chrystelle, Shuen, Andrew, Hampel, Heather, Foulkes, William D, Baris Feldman, Hagit, Goldberg, Yael, Muleris, Martine, Wolfe Schneider, Kami, McGee, Rose B, Jasperson, Kory, Rangaswami, Arun, Brugieres, Laurence, and Tabori, Uri

Abstract

BackgroundConstitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign manifestations mimicking neurofibromatosis type 1. Genetic testing may not be informative and is complicated by pseudogenes associated with the most commonly associated gene, PMS2. To date, no diagnostic criteria exist. Since surveillance and immune-based therapies are available, establishing a CMMRD diagnosis is key to improve survival.MethodsIn order to establish a robust diagnostic path, a multidisciplinary international working group, with representation from the two largest consortia (International Replication Repair Deficiency (IRRD) consortium and European Consortium Care for CMMRD (C4CMMRD)), was formed to establish diagnostic criteria based on expertise, literature review and consensus.ResultsThe working group established seven diagnostic criteria for the diagnosis of CMMRD, including four definitive criteria (strong evidence) and three likely diagnostic criteria (moderate evidence). All criteria warrant CMMRD surveillance. The criteria incorporate germline mismatch repair results, ancillary tests and clinical manifestation to determine a diagnosis. Hallmark cancers for CMMRD were defined by the working group after extensive literature review and consultation with the IRRD and C4CMMRD consortia.ConclusionsThis position paper summarises the evidence and rationale to provide specific guidelines for CMMRD diagnosis, which necessitates appropriate surveillance and treatment.

Published
2022
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15. Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions

Author

Porter, Christopher C., primary, Druley, Todd E., additional, Erez, Ayelet, additional, Kuiper, Roland P., additional, Onel, Kenan, additional, Schiffman, Joshua D., additional, Wolfe Schneider, Kami, additional, Scollon, Sarah R., additional, Scott, Hamish S., additional, Strong, Louise C., additional, Walsh, Michael F., additional, and Nichols, Kim E., additional

Published
2017
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