The genome sequencing in healthy persons can be useful, provided that such information is handled with the necessary confidentiality and used with the medical and ethical caution required

On 27th June, Annals of Internal Medicine published a study in which researchers sequenced the whole genome of a small sample of (in principle) healthy people, in order to describe the effect that whole-genome sequencing (WGS) might have on assessing family history and primary medical care (see Human genome grammar).

Method of the study

The study included 100 generally healthy patients, all of whom received a family history report; 50 of these were randomly chosen to have genome sequencing as well. The sequencing revealed that 11 of the patients (22%) were carriers of genetic variants linked to the development of rare diseases, although signs and symptoms associated with these variants were found in only 2 of them (4%). The results of the sequencing also led primary care physicians to recommend new clinical actions in 34% of cases, while 41% of patients sequenced said that they had made a health behavior change after 6 months.

Study conclusion

The study concluded that including evaluation of the genome in primary care can reveal molecular abnormalities, although the clinical utility of these findings is uncertain and may lead to clinical actions of unclear value.

It was also found that in 2 of the 11 cases diagnosed as carriers, the doctor had misinterpreted the genetic information. The lead study author, Jason Vassy, says that: “Sequencing healthy individuals will inevitably reveal new findings for that individual, only some of which will have actual health implications. This study provides some reassuring evidence that primary care providers can be trained to manage their patients’ sequencing results appropriately”.

Genome sequencing in healthy persons 

Juan Cruz Cigudosa, president of the Spanish Association of Human Genetics (AEGH), told Diario Médico that, “The genetic variability in the healthy population is enormous, and the link we are trying to establish between genetic alterations and pathological phenotype changes constantly”, and that, “we are in a phase of accumulating information, not of making clinical decisions”.

Miguel Ribas, coordinator of the working group in Genetics and Rare Diseases of the Spanish Society of Family and Community Medicine (Semfyc), warns of the possibility of “creating sick patients for life”, “potential patients who, in the great majority of cases, will not become so”.

Ethical considerations

We believe there are several ethical considerations that need to be taken into account. First of all, knowing all the information about the genome itself could be an unjustified source of concern for patients and their relatives, since problematic genetic variants might never have a pathological manifestation. This is exacerbated by the fact that our current capacity to correctly interpret these results is very limited. Healthcare expenditure also enters the debate. In the aforementioned study, patients whose genome was sequenced spent around 350 dollars more in the healthcare system in the 6 months after they had been given their results, to which we can add the costs of the genome sequencing itself. Finally, problems arise regarding the privacy and confidentiality of the information revealed by these types of studies. For example, if this information was accessible to insurance companies or those responsible for recruitment, they could be a source of discrimination towards those with undesirable genetic variants. In any case, there is no doubt that examining the genome of any patient can be useful, provided that such information is handled with the necessary confidentiality and used with the medical and ethical caution required.


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