Do you include the 56 genes as outlined in the American College of Medical Genetics (ACMG) Recommendations for Reporting of Incidental Findings document as part of your report?
We report “Incidental Findings” for the proband only. Probands may opt in for the reporting of incidental findings in our Informed Consent document. We only report on the genes recommended by the ACMG for incidental findings reporting (but may not report on all depending on IP restrictions).
How are results reported for family members?
A report is only issued for the proband. In accordance with ACMG guidelines (Genet Med. 2013 Sep;15(9):733-47), if a variant(s) causative of the clinical phenotype is found in the proband and another family member, the report will indicate that the variant is inherited, but it will not indicate the other family member(s) who also carry the variant. Secondary findings will be analyzed for the proband only, and only if requested on the Informed Consent form (see above).
If a family member desires testing for a variant identified in the proband, this can be ordered as a separate single-site confirmation test for that family member. Please contact the Personalis Clinical Operations team at +1 650-752-1349 or [email protected] to arrange.
If there are two affected siblings in a family, both can be treated as probands with clinical reports being issued for each sibling. Please contact the Personalis Clinical Operations team at +1 650-752-1349 or [email protected] to arrange.
Do you report on non-paternity?
Yes. It is possible that we may learn that the true biological relationships of the family members being tested are different than what has been reported to Personalis. These types of results will be included in the report. This issue is addressed in our Informed Consent form.
Do you report on consanguinity?
Yes. We look for unusual levels of homozygosity as this can indicate uniparental disomy or consanguinity, which can guide our analysis. We follow the ACMG guidelines for reporting suspected consanguinity (Genet Med. 2013 Feb;15(2):150-2).
Do you provide analysis of mitochondrial DNA?
Yes. We are able to detect and report on variants in the mitochondrial genome.
Do you report on mosaicism, trinucleotide repeats, or abnormal methylation?
Currently we do not report on mosaicism, trinucleotide repeats or abnormal methylation. We have detected and reported mosaic variants under a research protocol and are working on clarifying our threshold for clinical reporting. While we do not currently report on abnormal methylation, we do routinely test for some forms of uniparental disomy.
Do you report “novel” genes not previously associated with human disease?
In general, we only report genes that have been previously associated with the clinical phenotype of the patient being tested. Occasionally, we will report that the genetic etiology appears to be a variant(s) in a gene that has not been directly implicated in human disease. Very strong evidence must be available for the gene’s likely involvement in such cases, e.g., it may be that the gene lies within a known microdeletion syndrome region which has phenotypic overlap with the case in question, and/or it may be that the gene is already considered a candidate gene for a condition and has strong animal model evidence for the phenotype. In all cases, the report would contain a summary of the evidence for the reported genetic etiology, both at the gene level and at the variant level. All variants in genes that have not been directly implicated in human disease are considered “variants of uncertain significance”.
Can I get the raw data files for my patient?
Yes. We are happy to provide raw data files (ex. VCF, BAM, FASTQ) to the ordering physician. A separate consent form must be filled out by the physician and all patients submitted as part of the family in order for raw data files to be released. Contact our clinical services department at +1 650-752-1349 or [email protected] for further information.
Do you offer re-analysis of data at a later date?
Yes. Upon physician’s request, we offer re-analysis for a nominal processing fee.
Who is your clinical laboratory director?
Dr. Massimo Morra, MD, PhD and Dr. Martina Lefterova, MD, PhD
Who is on the clinical team working on cases?
Each case is reviewed by our clinical team, whose members have expertise in in various aspects of genetics/genomics, in order to make thorough assessments regarding the variants that are detected in each sample. Our clinical team comprises lab directors, medical physicians, genetic counselors, PhD scientists, and bioinformaticians.
Do you have a medical review board?
Personalis has brought together a world-class team of physician scientists with both genomics and clinical expertise, including experts from Stanford University and the University of California, San Francisco (UCSF), to join a leading-edge team of physicians, Ph.D. scientists, genetic counselors, and bioinformaticians at Personalis. This group of experts participates in both the design and development of the ACE Clinical Exome Test as well as the interpretation of submitted cases. The newly formed physician scientist consulting team brings together broad medical genetics expertise with specialists in neurology, cardiology, hereditary cancer, immunology, and dysmorphology.
Who sits on your scientific advisory board?
Dr. Michael Snyder, Dr. Atul Butte, Dr. Russ Altman, Dr. Euan Ashley (our founders), and Dr. Carlos Bustamante all sit on our SAB.