No. Since all samples were anonymized, we are not able to pull out an individual patient’s data. Additionally, all exome sequencing performed for this group of patients was performed under research parameters and not at a clinical grade (or level); therefore, we cannot release research grade exome data to patients.

Your privacy is protected within AmbryShare. If you are included in the AmbryShare database, the results cannot be traced back to you. Here are the reasons why:

• There is no link between the data (clinical or medical history and DNA sequence data) and each patient’s identity. In other words, the samples have been anonymized.
• Data are shared in aggregate, meaning all of it is combined together as a group. AmbryShare only provides information on how many times each gene change was seen in the total group of patients, so it is not possible for a single person to be identified from these data.

If your doctor or genetic counselor orders your genetic testing through Ambry Genetics, there is a place on the test ordering form for your doctor or genetic counselor to specify whether or not you would like your sample to be used for research purposes. If you say yes, you might be included in AmbryShare.

• Since the samples included in AmbryShare are anonymized, we will not be able to notify you if your sample is included, or provide your results.
• You can register to receive updates on our progress.
• Visit our patient websites at patients.ambrygen.com to find useful resources, tools, and videos about genetics and many hereditary diseases. You can also use our family history tool to complete a Family History Questionnaire and discuss if genetic counseling and/or testing is right for you with your healthcare provider.

• All testing done through AmbryShare was, and will be, performed on a research basis.
• Researchers can study the genetic information from a large number of people with a similar type of disease. They can do this to look for markers and identify patterns to help discover things like new genes that may be connected to a particular disease, new gene mutations that may cause disease, and new drug targets.
• Anything that is identified will need to be tested further before it could be used to treat or diagnose a disease.

No. As mentioned above, all samples were de-identified and data were reviewed in an entire aggregate. The study does not allow us to trace any data, findings, or results back to individuals. However, we do hope that researchers will use AmbryShare to learn new things that will improve how we diagnose and/or treat disease.

Please click here to read a detailed FAQ about the AmbryShare project and sharing genomic data.