ACMG recommends reporting incidental findings to patients
Source: GenomeWeb
In a new report the American College of Medical Genetics (ACMG) recommends that patients undergoing genome sequencing should be informed about some incidental genetic findings that come to light.
Incidental findings are those that are not being specifically tested for, and are not usually reported to either patients or to their doctors. The new report, ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,said that for a small number of conditions findings should be returned to the physician, who could then discuss them with the patient.
Conditions listed in the report include highly penetrant disorders with strongly-established genetic risk factors, such as hereditary breast and ovarian cancer, familial hypercholesterolaemia and retinoblastoma.
The report acknowledged there is debate about whether such incidental findings should be returned to patients (see our previous commentary), but emphasised that their recommendations apply only to sequencing that had been requested by a clinician, and are not intended to cover patients taking part in general genomic research studies.
Head of the National Human Genome Research Institute's Genetic Disease Research Branch Leslie Biesecker said “a small percentage of families that are sequenced […] will learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for".
The full report can be accessed on the ACMG website.
In a new report the American College of Medical Genetics (ACMG) recommends that patients undergoing genome sequencing should be informed about some incidental genetic findings that come to light.Incidental findings are those that are not being specifically tested for, and are not usually reported to either patients or to their doctors. The new report, ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,said that for a small number of conditions findings should be returned to the physician, who could then discuss them with the patient.
Conditions listed in the report include highly penetrant disorders with strongly-established genetic risk factors, such as hereditary breast and ovarian cancer, familial hypercholesterolaemia and retinoblastoma.
The report acknowledged there is debate about whether such incidental findings should be returned to patients (see our previous commentary), but emphasised that their recommendations apply only to sequencing that had been requested by a clinician, and are not intended to cover patients taking part in general genomic research studies.
Head of the National Human Genome Research Institute's Genetic Disease Research Branch Leslie Biesecker said “a small percentage of families that are sequenced […] will learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for".
The full report can be accessed on the ACMG website.
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