Ethical considerations for modern molecular pathology

J Pathol. 2018 Dec;246(4):405-414. doi: 10.1002/path.5157.

Abstract

Molecular pathology is becoming an increasingly important discipline in oncology as molecular tumor characteristics will increasingly determine targeted clinical cancer care. In recent years, many technological advances have taken place that contributed to the development of molecular pathology. However, attention to ethical aspects has been lagging behind as illustrated by the lack of publications or professional guidelines. Existing guidelines or publications on ethical aspects of DNA sequencing are mostly aimed at germline or tumor sequencing in clinical genetics or biomedical research settings. As a result, large differences have been demonstrated in the process of tumor sequencing analysis between laboratories. In this perspective we discuss the ethical issues to consider in molecular pathology by following the process of tumor DNA sequencing analysis from the preanalytical to postanalytical phase. For the successful and responsible use of DNA sequencing in clinical cancer care, several moral requirements must be met, for example, those related to the interpretation and returning of genetic results, informed consent, and the retrospective as well as future use of genetic data for biomedical research. Many ethical issues are new to pathology or more stringent than in current practice because DNA sequencing could yield sensitive and potentially relevant data, such as clinically significant unsolicited findings. The context of molecular pathology is unique and complex, but many issues are similar to those applicable to clinical genetics. As such, existing scholarship in this discipline may be translated to molecular pathology with some adaptations and could serve as a basis for guideline development. For responsible use and further development of clinical cancer care, we recommend that pathologists take responsibility for the adequate use of molecular analyses and be fully aware and capable of dealing with the diverse, complex, and challenging aspects of tumor DNA sequencing, including its ethical issues. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Keywords: cancer; ethics; genetics; molecular pathology; next-generation sequencing; pathology; personalized medicine.

MeSH terms

  • Biomarkers, Tumor / genetics*
  • DNA, Neoplasm / genetics*
  • Genetic Counseling / ethics
  • Genetic Counseling / standards
  • Genetic Predisposition to Disease
  • Genetic Privacy / ethics*
  • Genetic Privacy / standards
  • Guideline Adherence / ethics
  • Humans
  • Informed Consent / ethics
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Pathologists / ethics*
  • Pathologists / standards
  • Pathology, Molecular / ethics*
  • Pathology, Molecular / standards
  • Phenotype
  • Practice Guidelines as Topic
  • Practice Patterns, Physicians' / ethics*
  • Practice Patterns, Physicians' / standards
  • Predictive Value of Tests
  • Reproducibility of Results
  • Sequence Analysis, DNA / ethics*
  • Sequence Analysis, DNA / standards

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm