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Cytogenetics

Professional Standards

Professional standards in the clinical laboratory extend beyond technical proficiency to encompass the legal and ethical obligations owed to the patient. In Cytogenetics, where the data generated is inherently personal, hereditary, and life-altering, adherence to strict confidentiality protocols and a robust code of ethics is mandatory

Patient Confidentiality (HIPAA)

The Health Insurance Portability and Accountability Act (HIPAA) mandates the protection of Protected Health Information (PHI). In the context of the Cytogenetics laboratory, PHI includes not only names and medical record numbers but also the unique genetic profiles generated during testing

  • Protected Health Information (PHI): Includes any identifier that can link data to a specific individual. Common lab identifiers include Patient Name, Date of Birth, Medical Record Number (MRN), and the internal Laboratory Accession Number. Unique chromosomal rearrangements or microarray profiles are also considered potential identifiers
  • Minimum Necessary Standard: Laboratory scientistsare authorized to access only the information required to perform their specific job duties. Accessing the medical record of a VIP, neighbor, or family member without a clinical reason is a violation of federal law and grounds for termination
  • Physical and Electronic Security
    • Workstations: Computer screens displaying karyotypes or patient lists must be positioned away from public view and locked (logged off) when the user steps away
    • Disposal: All worksheets, draft reports, and labels must be disposed of in secure shredding bins, never regular trash
    • Communication: Adhere to the “Elevator Rule”: never discuss patient cases or results in public areas (cafeterias, hallways) where conversations can be overheard
  • GINA: The Genetic Information Nondiscrimination Act (2008) works alongside HIPAA to prevent health insurers and employers from using genetic test results to discriminate against individuals

Professional Ethics & Standards

Laboratory scientists adhere to a Code of Ethics (e.g., ASCLS) that prioritizes patient welfare, professional integrity, and continuous competence

  • Duty to the Patient
    • Accuracy: It is an ethical obligation to strictly follow Standard Operating Procedures (SOPs). Taking shortcuts (e.g., shortening incubation times) undermines the diagnosis and violates patient trust
    • Transparency: If an error occurs (e.g., sample switch or processing failure), it must be reported immediately. Concealing an error is a severe ethical breach that endangers the patient
  • Integrity of Data: Falsifying Quality Control (QC) data (e.g., “dry-labbing” or recording incubator temperatures without checking) is fraudulent. Laboratory scientistsmust report results impartially, regardless of the clinical implications (e.g., prenatal diagnosis)
  • Competence and Certification
    • Continuing Education (CE): Cytogenetics is a rapidly evolving field. Laboratory scientistshave an ethical duty to maintain current knowledge through CE to ensure they are applying the best standards of care
    • Certification: Maintaining credentials (e.g., ASCP) demonstrates a commitment to professional excellence
  • Incidental Findings: Laboratory scientistsmust handle sensitive incidental findings (such as non-paternity or consanguinity discovered during microarray analysis) according to established laboratory policy, ensuring these complex issues are conveyed to the ordering physician for appropriate counseling