Literature DB >> 29427212

Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma.

Minerva A Romero Arenas1, Thereasa A Rich1, Samuel M Hyde2, Naifa L Busaidy3, Gilbert J Cote3, Mimi I Hu3, Robert F Gagel3, Paul W Gidley4, Camilo Jimenez3, Michael E Kupferman4, Susan K Peterson5, Steven I Sherman3, Anita Ying3, Roland L Bassett6, Steven G Waguespack3, Nancy D Perrier1, Elizabeth G Grubbs7.   

Abstract

BACKGROUND: No guidelines exist regarding physicians' duty to inform former patients about novel genetic tests that may be medically beneficial. Research on the feasibility and efficacy of disseminating information and patient opinions on this topic is limited.
METHODS: Adult patients treated at our institution from 1950 to 2010 for medullary thyroid cancer, pheochromocytoma, or paraganglioma were included if their history suggested being at-risk for a hereditary syndrome but genetic risk assessment would be incomplete by current standards. A questionnaire assessing behaviors and attitudes was mailed 6 weeks after an information letter describing new genetic tests, benefits, and risks was mailed.
RESULTS: Ninety-seven of 312 (31.1%) eligible patients with an identified mailing address returned the questionnaire. After receiving the letter, 29.2% patients discussed genetic testing with their doctor, 39.3% considered pursuing genetic testing, and 8.5% underwent testing. Nearly all respondents (97%) indicated that physicians should inform patients about new developments that may improve their or their family's health, and 71% thought patients shared this responsibility. Most patients understood the letter (84%) and were pleased it was sent (84%), although 11% found it upsetting.
CONCLUSIONS: Patients believe it is important for physicians to inform them of potentially beneficial developments in genetic testing. However, physician-initiated letters to introduce new information appear inadequate alone in motivating patients to seek additional genetic counseling and testing. Further research is needed regarding optimal methods to notify former patients about new genetic tests and corresponding clinical and ethical implications.

Entities:  

Mesh:

Year:  2018        PMID: 29427212     DOI: 10.1245/s10434-018-6366-0

Source DB:  PubMed          Journal:  Ann Surg Oncol        ISSN: 1068-9265            Impact factor:   5.344


  6 in total

1.  The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Authors:  Yvonne Bombard; Kyle B Brothers; Sara Fitzgerald-Butt; Nanibaa' A Garrison; Leila Jamal; Cynthia A James; Gail P Jarvik; Jennifer B McCormick; Tanya N Nelson; Kelly E Ormond; Heidi L Rehm; Julie Richer; Emmanuelle Souzeau; Jason L Vassy; Jennifer K Wagner; Howard P Levy
Journal:  Am J Hum Genet       Date:  2019-04-04       Impact factor: 11.025

2.  Patients with unexplained mismatch repair deficiency are interested in updated genetic testing.

Authors:  Jessica Omark; Eduardo Vilar; Y Nancy You; Leslie Dunnington; Sarah Noblin; Blair Stevens; Maureen Mork
Journal:  Hered Cancer Clin Pract       Date:  2020-09-21       Impact factor: 2.857

3.  Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.

Authors:  Juliann M Savatt; Danielle R Azzariti; David H Ledbetter; Emily Palen; Heidi L Rehm; Erin Rooney Riggs; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-18       Impact factor: 8.822

4.  Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing.

Authors:  Ryan Mooney; Whitney Espinel; Ashley Elrick; Kelsey Kehoe; Wendy Kohlmann; Kimberly A Kaphingst
Journal:  J Genet Couns       Date:  2021-09-27       Impact factor: 2.717

5.  Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Authors:  Daniele Carrieri; Heidi C Howard; Caroline Benjamin; Angus J Clarke; Sandi Dheensa; Shane Doheny; Naomi Hawkins; Tanya F Halbersma-Konings; Leigh Jackson; Hülya Kayserili; Susan E Kelly; Anneke M Lucassen; Álvaro Mendes; Emmanuelle Rial-Sebbag; Vigdís Stefánsdóttir; Peter D Turnpenny; Carla G van El; Irene M van Langen; Martina C Cornel; Francesca Forzano
Journal:  Eur J Hum Genet       Date:  2018-10-11       Impact factor: 4.246

6.  Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.

Authors:  Mary E Velthuizen; Rob B van der Luijt; Beja J de Vries; Marco J Koudijs; Eveline M A Bleiker; Margreet G E M Ausems
Journal:  Hered Cancer Clin Pract       Date:  2021-01-19       Impact factor: 2.857

  6 in total

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