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Whole-Genome Sequencing: Clinical Guidelines for Europe

The European Society of Human Genetics has developed recommendations for how to incorporate whole-genome sequencing into clinical diagnostics. The recommendations appear in the June issue of the European Journal of Human Genetics. The list joins recent recommendations for new types of genetic testing in certain specialties, such as neonatology, pediatrics, and ophthalmology.

The recent increased speed and decreased cost of sequencing genomes has led some healthcare systems to contemplate including genomic information in diagnosis. Compared with traditional single-gene tests, genome sequencing will provide an unprecedented amount of information, which the committee members call a “genomic tsunami.”

Authors Carla G. van El, PhD, from VU University Medical Center in Amsterdam, the Netherlands, and colleagues distilled findings from the Public and Professional Policy Committee and the Quality Committee of the European Society of Human Genetics from a workshop in Gothenburg, Sweden, in 2010 and from workshops in Amsterdam in January 2011.

The recommendations focus on interpreting and communicating genomic information, which requires bioinformatics expertise beyond the scope of most medical practitioners. The new sequencing capability includes whole genomes from somatic cells (including cancer cells) and exomes (the protein-encoding portion of the genome). The issues raised are not new, the researchers write, but are looming at a new scale.

The recommendations are:

  • Clinicians and researchers using the new technologies should share their experiences and establish testing guidelines at the local, national, and international levels.
  • Targeted sequencing is preferred to minimize unsolicited (incidental) findings.
  • The risk–benefit profile in individual cases should justify a sequencing approach to diagnosis.
  • A protocol must be in place for healthcare professionals to communicate unsolicited findings.
  • Guidelines for informed consent should be developed, but a patient’s desire not to know should not override the practitioner’s providing information when a condition is treatable or affects relatives.
  • Patients should be informed if their genetic information is used in research or stored in biobanks.
  • Guidelines should be established for which unsolicited findings in minors should be disclosed to parents.
  • Guidelines should address recontacting patients when new research findings affect care.
  • Nations should collaborate on establishing and maintaining databases of genotypic and phenotypic information on gene variants and patients.
  • Primary care physicians and specialists should continue their education so that they can discuss and interpret genetic test results for patients.
  • Experts in genetics and genomics should raise public awareness of genetic testing and screening.

Debra Han, MPH, a licensed certified genetic counselor at GeneFacts and an adjunct professor at Palomar Community College, Escondido, California, applauds the recommendations. “Whole-genome sequencing has given the scientific community the ability to look at all of a person’s genetic information. Given this new ability, we now need to interpret this information and counsel the family on the significance-both expected and unexpected. Overall, we need to remember, ‘first, do no harm,’ ” she told Medscape Medical News.

The authors and commentator have disclosed no relevant financial relationships.

Eur J Hum Genet. 2013;21:580-584. Full text