Whole-genome sequencing in health care - Recommendations of the European Society of Human Genetics

Blogger's Note: there are numerous references to 'unsolicited findings' with the explanation of the term given in the article;  basically the 'term' is meant to replace or qualify, what is commonly known, as something which is found but not anticipated during care

open access

 Recommendations

1. In order to contribute to developing best practices in implementing WGS/WES into health care, stakeholders from relevant fields in research and the clinic should set up structures for sharing experiences and establish testing guidelines at local, national and international levels.
2. When in the clinical setting either targeted sequencing or analysis of genome data is possible, it is preferable to use a targeted approach first in order to avoid unsolicited findings or findings that cannot be interpreted. Filtering should limit the analysis to specific (sets of) genes. Known genetic variants with limited or no clinical utility should be filtered out (if possible neither analyzed nor reported).
3. The use of genome-wide arrays or WGA requires a justification in terms of necessity (the need to solve a clinical problem) and proportionality (the balance of benefits and drawbacks for the patient).
4. Whenever the use of these techniques is considered, a protocol has to be in place to give guidance on the reporting of unsolicited findings. If the detection of an unsolicited genetic variant is indicative of serious health problems (either in the person tested or his or her close relatives) that allow for treatment or prevention, in principle, a health-care professional should report such genetic variants.
5. Guidelines for informed consent regarding diagnostic testing need to be developed. Patients’ claims to a right not to know do not automatically over-ride professional responsibilities when the patient’s own health or that of his or her close relatives are at stake. Patient groups could provide important input into how this should be handled.
6. As testing for health care and for biobank research can be intertwined activities, clinicians should be aware of the importance of safeguarding the patient’s position and explain the potential crossover with research. Relevant normative frameworks including consent procedures for diagnosis, research, disclosure and storage need to be reconsidered, and if necessary adapted to the challenges of the new situation.
7. In case of testing minors, guidelines need to be established as to what unsolicited information should be disclosed in order to balance the autonomy and interests of the child and the parental rights and needs (not) to receive information that may be in the interest of their (future) family.
8. In the case where new scientific evidence of clinical relevance to patients arises from the initial investigation after a diagnostic question was dealt with, the possibility of recontacting participants should be considered. A guideline should be established detailing how and when this should be done.
9. To facilitate the interpretation of genome data, international collaboration is needed to build sustainable databases on genotypic and phenotypic information of variants and patients.
10. A sustained effort at genetic education of health-care professionals is required at various levels: in primary care to inform and refer people appropriately, and in specialized care to counsel or refer patients, and to discuss and interpret genetic test results adequately.
11. Genetic experts should engage in discussing new developments in genetics, and explain the pros and cons of genetic testing and screening in clinical and commercial settings to inform the public and raise public awareness. Enhancing genetic literacy in patients and the lay public will help to involve wider society in this debate.