Frequently Asked Questions

Here are some frequently asked questions about AmbryShare. You can also get
more details about it here.

Patient or Advocate FAQ

  • AmbryShare is a research program designed to provide the scientific community with genomic data to accelerate the understanding of human disease.
  • Access to the AmbryShare database is free to all.
  • AmbryShare’s goal is to share enough data to help all human disease be understood, leading to treatments and cures.

No. Samples included in AmbryShare were completely de-identified (made anonymous) and we cannot connect them back to the person they came from.

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.

Medical Professional FAQ

The world would be a better place if all human disease was understood. We hope the scientific community finds utility in the AmbryShare database and dataset to better understand disease on their own and/or in collaboration with Ambry. We encourage the following groups to use this database:

  • Researchers and scientists: mine AmbryShare looking for candidate genes for new gene-disease relationships, variants for functional analysis or drug targets, and other important research goals.
  • Worldwide clinical and research laboratories performing variant assessment: leverage the AmbryShare database alongside other databases, to assess variants and assist in interpretation of results in AmbryShare, with the goal of understanding human disease.
  • Patients: to register with AmbryShare to receive updates, gain access to our family history tool, and take it to your healthcare provider to discuss if genetic counseling and/or testing is right for you.

Samples were selected from patient samples received at Ambry Genetics for clinical genetic testing, focused on breast and ovarian cancer. All patients consented to the use of their sample for research.

Yes, all patients included in this cohort consented to use of their DNA for research.

No. All data (clinical history and sequence data) has been de-identified, and available in AmbryShare in aggregate by variant and disease type. Here is an example of what the aggregate data would like for a particular variant (click image to enlarge):

Based on strict adherence to our protocol, which was IRB approved as exempt, only the type of disease the patient had will be provided (e.g. breast cancer).

  • No. We cannot determine which patients’ samples were included in the AmbryShare dataset.
  • To determine whether or not a particular patient consented for the use of their sample in research, please refer to your copy of their Ambry Genetics Test Requisition Form.

Please assure them that their information has been de-identified and is part of an aggregate. If Ambry wishes to use a patient’s data further, Ambry is obligated to obtain additional IRB approval to obtain explicit consent from an individual in order to do so. At that time, the patient can decline if they wish.

Patients may choose to opt in or out of their sample being used for research purposes on the Ambry Genetics Test Requisition Form. Samples from patients who opt in may be included in AmbryShare.

  • AmbryShare is a database of genetic and clinical information from individuals on whom Ambry Genetics performed exome sequencing (e.g. sequenced every gene in their body, focusing on their exome).
  • AmbryShare’s goal is to share enough data to help all human disease be understood, leading to treatments and cures.
  • Ambry has sequenced every gene in 10,000+ people with breast and/or ovarian cancer. All personally identifiable information has been removed from these data and they are grouped together, so no person can be identified from these data. If you have genetic testing through Ambry Genetics and indicate on the Test Requisition Form that you agree to Ambry using your sample for research, you sample could be included in AmbryShare. Your personally identifying information would not be connected to it.
  • This Institutional Research Board (IRB)-approved study was classified as “exempt” from full informed consent, but we chose to include samples from patients that consented to the use of their sample for research. We specifically excluded samples from patients that asked for their sample NOT to be used in research.
  • What if my patients asks for his/her sample to be removed from AmbryShare?
    • Please assure them that their information has been anonymized and is part of an aggregated dataset. If Ambry wishes to use a patient’s data further, Ambry is obligated to obtain additional IRB approval to obtain explicit consent from an individual in order to do so. At that time, the patient can decline if they wish.
  • What will happen to my patients sample when it is sent to Ambry for clinical genetic testing?
    • Samples sent to Ambry for clinical genetic testing may be used for research purposes only if the patient agrees to the use of their sample for research purpose and this is indicated on the Test Requisition Form. Research may include the use of the sample for internal training and validation, inclusion in AmbryShare dataset, or other research purposes.

Researcher FAQ

The world would be a better place if all human disease was understood. We hope the scientific community finds utility in the AmbryShare database and dataset to better understand disease on their own and/or in collaboration with Ambry. We encourage the following groups to use this database:

  • Researchers and scientists: mine AmbryShare looking for candidate genes for new gene-disease relationships, variants for functional analysis or drug targets, and other important research goals.
  • Worldwide clinical and research laboratories performing variant assessment: leverage the AmbryShare database alongside other databases, to assess variants and assist in interpretation of results in AmbryShare, with the goal of understanding human disease.
  • Patients: to register with AmbryShare to receive updates, gain access to our family history tool, and take it to your healthcare provider to discuss if genetic counseling and/or testing is right for you.

The AmbryShare database: This includes anonymized aggregate allele frequency data derived from exome sequencing of 10,000+ patients with disease. Here is an example of how the aggregate data would look for a particular variant (click image to enlarge): The Data: Request to download the aggregated cohort data (VCF File). Again, no individual sequence data or detailed clinical information is included in this dataset.

Samples were selected from patient samples received at Ambry Genetics for clinical genetic testing, focused on breast and ovarian cancer. All patients consented to the use of their sample for research.

Based on strict adherence to our research protocol, which was IRB-approved as exempt, only the type of disease the patient had will be provided (e.g. breast cancer).

Yes, you may request a copy of the aggregate data. Once you register and complete our Data Request Form, you will be provided with access to download.
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