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Original research
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting
  1. Seema Panchal1,2,
  2. Radhika Mahajan2,3,
  3. Navneet Aujla2,3,
  4. Paul McKay1,2,
  5. Selina Casalino2,3,
  6. Vanessa Di Gioacchino1,2,
  7. George S Charames1,2,3,
  8. Maude Lefebvre4,
  9. Kelly A Metcalfe5,6,
  10. Mohammad Reza Akbari6,
  11. Jeanna Marie McCuaig1,7,
  12. Jordan Lerner-Ellis1,2,3
  1. 1 University of Toronto, Toronto, Ontario, Canada
  2. 2 Mount Sinai Hospital, Toronto, Ontario, Canada
  3. 3 Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada
  4. 4 Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada
  5. 5 Lawrence S Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, Canada
  6. 6 Women’s College Research Institute, Toronto, Ontario, Canada
  7. 7 Princess Margaret Cancer Centre, Toronto, Ontario, Canada
  1. Correspondence to Dr Jordan Lerner-Ellis, University of Toronto, Toronto, ON M5S 1A1, Canada; jordan.lerner-ellis{at}


Objective The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.

Methods Genetic testing was conducted on 2977 individuals originally referred for BRCA1 and BRCA2 hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to PALB2 for the purposes of this study. A patient recontact decision tree was developed to assist in the returning of updated genetic test results to clinics and patients.

Results Novel clinically actionable pathogenic variants were identified in the PALB2 gene in 18 participants (0.6%), the majority of whom were recontacted with their new or updated genetic test results. Eight individuals were unable to be recontacted; five individuals had already learnt about their new or updated findings from genetic testing outside the context of this study; three individuals prompted cascade testing in family members; two individuals were deceased.

Conclusion Novel pathogenic variants in PALB2 were identified in 18 individuals through retrospective gene panel testing. Recontacting these individuals regarding these new or updated findings had a range of outcomes. The process of conveying genomic results within this framework can be effectively accomplished while upholding patient autonomy, potentially leading to advantageous outcomes for patients and their families.

  • Genetics
  • Genetic Predisposition to Disease

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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  • Contributors SP and JL-E conceived the study. JL-E, RM, NA, PM and SC drafted the manuscript. SP, VDG, GSC, ML, KAM, MRA, JMM and JL-E collected data for the study. SP, VDG and JMM were involved with patient contact. All authors were involved in critically reviewing the manuscript and approved the final draft. JL-E is the guarantor of the study.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.