Problems of unknown significance: Counseling in the era of next generation sequencing
29 oct 2018
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Categoría del artículo: Letter to the Editor
Publicado en línea: 29 oct 2018
Páginas: 73 - 76
DOI: https://doi.org/10.2478/bjmg-2018-0003
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© 2018 Fahrioğlu U, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Summary of current guidelines, next generation sequencing challenges and issues to be addressed in future guidelines_
| Current Guidelines | NGS Testing Challenges | Issues to be Addressed | |||
|---|---|---|---|---|---|
| 1 | Deal with a single gene or sequential gene testing. | 1 | Large number of genes being tested. | 1 | Counseling and consent procedures will need to be changed to fit large amounts of information produced by the NGS technology. |
| 2 | Provide up-to-date knowledge on the condition. | 2 | Phenotype-genotype relationship discussion of all genes tested difficult. | ||
| 3 | Clear discussion on phenotype-genotype correlations of the gene being tested. | 3 | Vast amount of information produced per test (Whole exome, whole genome or panel testing.) | 2 | The vastness of information is currently one of the biggest challenges of NGS and the counseling guidelines and procedures will have to evolve and come up with creative ways of handling this information pre- and post-test. |
| 4 | Consent and counseling procedure is clearly established in many areas such as cancer, neuromuscular disorder, single gene disorder, | 4 | Post-testing discussion difficult with the vast amount of information. | ||
| 5 | Post-testing discussion of findings and way forward. | 5 | Lack of specific guidelines directed at NGS. (Only some recommendations.) | ||
| 6 | Lower percentage of variant of unknown significance (VUS). | 6 | Lack of specific data to produce the appropriate guidelines. | 3 | Variants of unknown significance are already a problem with standard sequencing. Higher numbers of VUS might spell trouble for the counseling process. |
| 7 | Most guidelines established long before the use of NGS, latest one in 2014. | 7 | Higher false-positive rates and higher incidence of VUS compared to the Sanger method of sequencing. | 4 | The benefits and the limitations of the technology will need to be clearly spelled out for the patients. |
| 8 | Some test results could provide unsolicited information. | 5 | How to deal with unsolicited information. | ||