Recent advances in next-generation sequencing platforms and the development of novel bioinformatics tools for sequence analysis have revolutionized the field of medical genetics.
Nowadays, we can handle huge volumes of genomic data, and this situation raises ethical challenges that must be seriously taken into account. Sharing information must count upon the clients' prior consent to protect their privacy and interests, as well as return advantages of such information to them. Moreover, it is also important to highlight that not all genomic info should have the same level of privacy protection.
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Ethical Challenges Associated with Sharing Patient Genomic Data
Sharing patient genomic data may be crucial for improving the quality of healthcare provided to individuals who are treated with the same condition or related symptoms. Nonetheless, the stewardship of patient genomic data involves ethical issues associated with the anonymity of this data.
According to McGuire et al. (2008), individual-level data obtained from whole-genome sequencing raises three major ethical problems — the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing.
What are the Pros of Sharing Patient Genomic Data?
Improved healthcare services
The most important advantage of sharing patient genomic data almost surely lies in the increased likelihood of improving patients' quality of life with similar health conditions. This situation is particularly true in the field of genomic medicine, where genome sequencing can provide useful information about the existence of defective proteins, and transcriptomics gene expression data can be used to discover prognostic markers for early diagnosis or as evidence of either misexpression or overexpression of certain genes.
Liability and Risk Avoidance
Sharing patient genomic information needs to include comprehensive insurance to minimize liability for clinicians and researchers that otherwise would not exist if such data remains unshared.
Law Compliance and Regulatory Issues
Regulatory compliance is required to fulfill law requirements and guidelines relevant to research, including legislative and contractual entitlements. Transparent and easily accessible information is crucial for improving the performance of public policies regarding sharing patient genomic data, as well as for increasing the likelihood of preventing and/or curing genetic diseases. These practices should not disregard normative standards (both international and private normatives).
Regulatory compliance represents a key issue at every research stage and ensures that researchers are aware of and will take appropriate measures to comply with all required laws and regulations. In medicine, data privacy represents a major regulatory principle that should also be considered at each stage during patient information management.
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What are the Cons of Sharing Patient Genomic Data?
Sharing Potentially Inaccurate Genomic Information
The sharing of inaccurate or false genomic information may raise serious concerns regarding its applicability to health programs. Genomic data can eventually contain errors that represent an important source of noise for further studies in the field of genomic medicine. Possibly the most crucial source of misinformation is sample contamination.
A recent (preliminary) bioinformatic-based analysis discovered errors in nucleotide sequence reagents for approximately 700 publications about human gene function. Surprisingly, these papers have already received over 17,000 citations, including many in different human clinical trials. Park et al. (2021), who are the authors of this preliminary study, state 'given our estimate that approximately one-quarter of problematic papers are likely to misinform or distract the future development of therapies against human disease, urgent measures are required to address the problem of unreliable gene function papers within the literature'.
A data breach is defined as a security violation that exposes confidential or protected information to unauthorized persons. In genomics, this privacy infringement may severely impact individuals by providing sensible genomic information for illegitimate use.
For example, unscrupulous hackers might eventually sell stolen genomic data to unethical companies that take advantage of this information to hire employees based on the risk of genetic diseases.
The future of Sharing Patient Genomic Data
Fortunately, recent advancements in high-throughput sequencing have resulted in an increased ability to obtain massive volumes of genomic information at a relatively inexpensive cost. However, this situation also raises concerns about using data beyond research analysis.
A special mention deserves the fact that the consented use of sequencing data from a person may also expose sensitive information to others through a family tree. It is now clear that patient and genealogical records should be strictly protected during research and clinical trials.
In this regard, it is required to implement international laws and regulations that apply to all types of genomic information. All organizations involved (e.g., stakeholders who collect specimens, database operators, researchers, etc.) must meet the standard criteria to protect patient and filial information while using it for genomic analyses.
- Lu, A., P.K., Ida D. Time for a change: considering the rights of study participants to ownership of their personal research-grade genomic data. Convergent Science Physical Oncology 4.4 (2018): 046001. https://doi.org/10.1088/2057-1739/aaf822
- McGuire, A.L., Timothy C., and Mildred K.C. Research ethics and the challenge of whole-genome sequencing. Nature Reviews Genetics 9.2 (2008): 152-156. DOI: 10.1038/nrg2302
- Park, Y., et al. Human gene function publications that describe wrongly identified nucleotide sequence reagents are unacceptably frequent within the genetics literature. bioRxiv (2021). https://doi.org/10.1101/2021.07.29.453321
- Takashima, K., et al. Ethical concerns on sharing genomic data including patients' family members. BMC medical ethics 19.1 (2018): 1-6. https://doi.org/10.1186/s12910-018-0310-5.