Join the Invitae -Ciitizen & SLC6A1-related disorder Community
Contribute to new research.
Make your voice heard.
This study is open to US residents who are
diagnosed with SLC6A1-related disorder.
Join the Invitae & SLC6A1-related disorder Community
Contribute to new research. Make your voice heard.
This study is open to US residents who are diagnosed with SLC6A1-related disorder.
Joining takes less than 10 minutes and nothing happens without your consent.
- Click on “Join Now”
- Read and provide your consent to join
- Create your free Invitae Ciitizen profile
- Confirm your diagnosis and your provider(s)
- Upload your photo ID to verify your identity for your healthcare provider(s)
- If your child is the patient, upload their birth/death certificate to verify their identity for healthcare provider(s)
How it Works
No clinic visits required
Clinical data will be collected from patient’s health records, organized, and summarized - free of charge
Patients/caregivers retain full control of their health records
With consent, clinicians and researchers can access anonymized data to aid in research
Why is this digital natural history study important?
Natural History Studies and real world evidence are critical to the drug development process. Ciitizen has developed a new method to make this process easier. A next generation, digital Natural History Study for SLC6A1-related disorders is expected to facilitate:
- Informing clinical researchers how a disease changes over time
- Enabling better endpoint selection to use in clinical trials
- Reducing the time it takes to study new medicines in clinical trials
- Speeding up the time to get therapeutics to patients
- The use of data as a placebo (instead of actual patients) in a clinical trial
Why patient data is critical to the development of cures
Studies like these are critical to develop new medical treatments. By sharing your/your child’s de-identified medical data, you may be able to help researchers.
Develop new and targeted therapies
Design better clinical trials
Understand how the disease changes over time
Use data (instead of actual patients) in clinical trials
Supported diagnosis categories
Cholangiocarcinoma (Bile Duct Cancer)
Rhabdomyosarcoma (coming soon)
Myeloproliferative Neoplasm (MPN)
Frequently Asked Questions
Q: Who is eligible for the Ciitizen service?
A: Currently Ciitizen is open to individuals with a diagnosis or history of breast cancer, leukemia, cholangiocarcinoma, head and neck cancers, neurological disorders such as SCN2A, FoxG1, Rett and several other rare diagnoses. The platform will be offered more broadly in the future as Ciitizen develops support for additional therapeutic areas.
Q: Why is it so important to have your health information?
A: When you have access to your health information, you have the power to seek additional treatment options, to find potential clinical trials, and to share your information for research. When it resides only with your medical providers, you are dependent on them to keep it (and most providers do not keep records for more than 10 years); you’re also dependent on them to send it where you need it to go. By law health care providers are required to give you copies of your health records – but they are not required to do this immediately (they can take up to 30 days or more in some cases), and they can charge you a reasonable fee to do so. Having your health information helps you be more informed and more prepared, and allows you to participate in research to help others.
Q: Why was Ciitizen formed?
A: Ciitizen was founded by Anil Sethi in honor of his sister Tania, who was killed by metastatic breast cancer in 2017. Tania saw 17 oncologists, and went to 23 institutions during the course of her treatment, and while she was able to get some of the best care, her caretakers were always acting on limited information because her health history was so fragmented – and she didn’t have control over it. Our mission is to help patients explore all of their options by providing them with control of their comprehensive health information (including clinical, genomic, and imaging records) and the choice to share it with whomever they choose.
Q: I created an account already, but where do I log in?
A: Click “Log In” on the ciitizen.com website and log in with your username and password, or go to http://app.ciitizen.com and log in directly.
Q: Can I bring health records that are already in my possession onto the Ciitizen platform?
A: Yes, you have the option to upload health records that you have in your possession already. To upload your records after you have created your profile choose “get records” and then choose “have records to upload click here.”
Q: What type of technology do I need to use Ciitizen?
A: All you need is an internet connection and an internet browser such as Firefox, Google Chrome, or Safari. You can then access your Ciitizen account using a desktop computer, a laptop, a tablet, or a phone.
Q: What type of identification documents do I need to sign up for Ciitizen?
A: When you sign up you will need a copy of your driver’s license (or official government-issued photo id), which is required to obtain records on your behalf from the providers you identify.
Q. What type of identification documents do I need if I am signing up my child for Ciitizen?
You have the right under the Health Insurance Portability and Accountability Act (HIPAA) to get copies of your child’s records, but you will need to submit a copy of your child’s birth certificate, and a copy of your driver’s license, in order for us to show your child’s medical providers that we are seeking these records on your behalf as a parent of your child. If you are the child’s guardian, you will need to submit proof of guardianship.
Q. What type of identification documents do I need if I am signing up for Ciitizen on behalf of another adult?
You have the right under HIPAA to get copies of another person’s medical records if you are the “personal representative” of that individual. In the case of a living adult, a personal representative is someone who has the legal authority to make medical decisions for that adult (for example, a health care proxy or power of attorney). You will need to submit a copy of the paperwork that shows you have this authority. In the case of an adult who is deceased, you can obtain these records if you have been named in the patient’s will as the executor of the estate, or a court has appointed you the administrator of the estate – or some states will allow you to obtain records if you are a surviving spouse or other next of kin. Our onboarding process (or customer service) will direct you to the types of documents you might need to upload in this situation.
Q: How do I reset my password?
A: If you ever need to reset your password, simply click “Forgot Password?” on the login page located at app.ciitizen.com and we will email you a link to reset your password; for security reasons, this link expires in 24 hours. If you have trouble resetting your password or do not receive a link, you can also reach out to firstname.lastname@example.org.
Q: How do you get my health records?
Q: What do you do with my health records?
A: Ciitizen is the technology service that allows you to request access to copies of your historical health information and records through the “right of access” granted under the Health Insurance Portability and Accountability Act (also known as “HIPAA”), as well as through online portal accounts made available to you by some health care providers or health plans. Ciitizen aggregates and standardizes your Health Records, transforms them into digital data, and analyzes the information to offer you opportunities to share your information (for example, with caregivers, with your medical professionals, to find treatment, or to power research).
Q: Who can see my information – who has access?
A: The people who have access to your information are those that you share with specifically through your Ciitizen profile. In addition, select individuals who work for Ciitizen will have access to your health information on an as needed basis and only for purposes of maintaining your account, for improving our services, and for determining which opportunities may be of interest to you. We will not commercialize or share your information with any third parties without your explicit consent. Only those individuals working for Ciitizen who have a need to access your information will be granted permission to do so.
Q: How do I share my health information?
A: You share your health information by granting someone access to your Ciitizen profile through the “Care Team” or “Share” features. You can grant access to anyone you choose simply by providing an email address for the person with whom you want to share your information. You can designate how long that person should have access to your account and you may revoke access at any time. Ciitizen will also notify you of opportunities for you to share your health information – and you can decide, either in advance or at the time you receive notice of each opportunity, whether or not you want to share your information.
Q: Is it safe to keep my information on your platform?
A: Ciitizen uses HIPAA-compliant cloud services to maintain your information. Additionally, we encrypt information locally and have stringent policies for staff regarding access to information aimed at ensuring your information is protected at all times. We train staff and contractors regularly on our company security policies and requirements. Although we take standard industry precautions to prevent breaches – we are also prepared if they happen. We are required by federal and state law to notify you (and in some cases, regulatory authorities) promptly if there has been a breach of your health information, and we act promptly to investigate breaches to determine the cause and do our best to ensure to mitigate and resolve. Subject to relevant laws and regulations, we never share your information with any third parties or access it for any other commercial purpose without your explicit consent.
Q: What happens to my information if Ciitizen is sold or ceases to exist?
A: You own the access to your information, so even if Ciitizen is sold, you maintain your right to close your Ciitizen account at any time (and you can either request that the information in your profile be securely destroyed, or you may download the data for your own use). Where possible, we will inform you in advance of a transfer of ownership so you can decide whether to continue your account with a new owner. Similarly, if Ciitizen ceases to exist, except where barred by law we will provide you with advance notice and allow you to delete or transfer your account.
We also are committed to returning to Ciitizen users a portion of value gained from sharing their information with researchers, to the extent permitted by law (for example, in the form of direct payment, services, discounts, donations, or other value).
Most importantly – it will always be your choice of whether or not to share your health data with anyone. You can always change your mind and choose not to share with researchers if that is your preference. Your profile is yours to use even if you decide not to share it with anyone else.
Q: What is a Ciitizen Research Summary?
A: Ciitizen uses our patent pending machine learning (ML) engine to take the thousands of pages of documents found in a patient’s history and summarizes the most important elements in a patient’s disease. The elements in this summary are then matched with clinical terminology codes so that researchers can immediately make use of this information, such as in clinical trials or observational studies.
Q: Who will my information be shared with if I decide to share my records for research? Who are your partners?
A: Ciitizen works with partners that have a vision aligned to advance research for cancer and rare disease. These partners include physicians, academic institutions, drug companies and independent research organizations that support them. We will never disclose your information for insurance, advertising, or to 3rd parties not related to research without your express consent.
Q: Why should I share my records for research? Will my information be identifiable?
A: By agreeing to share your health information for research, you can help drug companies and research physicians to better understand the experience of patients like you, which can help lead to new treatments in the future. If you agree to your information being shared for observational research, we will share a summary of your profile with our research partners, for research purposes only. The information about you that we share with researchers will not contain information like your name, date of birth, phone number, address or other information that can be easily used to identify you. In addition, we will contractually prohibit vetted partners from attempting to re-identify the information.
Q: What does it mean that Ciitizen shares value with patients when their information is used in research?
A: Should a patient’s information be included in a study, Ciitizen is committed to returning a portion of the value gained from this study with users to the extent permitted by law (for example, in the form of direct payment, services, discounts, donations, or other value) or to donate this value to an advocacy or research non-profit as directed by the patient.
Q: What is the record access process?
A: You have the right under federal law (HIPAA) to get copies of all of your health records. Ciitizen helps you leverage this right by submitting your health records requests to your health care providers – and by educating providers about HIPAA compliance if necessary to help get these requests fulfilled.
Q: How quickly will I get my records?
A: HIPAA requires that providers send records to patients within 30 days of receiving the request except in a few select cases. Individual cases will vary on how quickly records will arrive. After a request is made, we follow-up and urge providers to get them to us as soon as possible. In rare cases, providers won’t send records in a timely fashion. After 45 days and multiple follow-up communications we will stop trying to collect these records and share next steps on how you can approach getting these records into your profile.
Q: How far back can you get my health records?
A: Ciitizen will ask for records going back to the date of your disease diagnosis. Health care providers do not have to keep your records indefinitely – and how long they are required to keep them varies by state law. In general, we have found it difficult to get records that are older than 10 years and, in some cases, providers may destroy them earlier than that.
Q: Why do I need to provide my signature?
A: The HIPAA right to copies of your records is YOUR right – so requests for your records need to come from you. We place your signature on a form letter we send to request your records. We only use your signature to sign records request letters, and these letters are ONLY sent to your medical providers.
Q: Why do I need to provide a clear (not blurry) copy of my photo ID?
A: Your medical requests are submitted to your medical providers by fax or by email – so the provider needs some way to prove identity, and that you authorized the request letters to be sent. A clear copy of your photo ID is a way to remotely show that you are making the request.
Q: Why does my signature and my signature on my ID need to match?
A: Your medical provider needs some assurance that it is you who authorized the request for records. They will look for a decent match between your signature and the signature on the ID in order to prove identity and make sure that the request for records is coming from you.
Q: My provider has contacted me directly about my request – what should I do?
A: Many providers, as a matter of company policy, will contact a patient about a records request just to confirm that the patient submitted the request. If your provider contacts you to confirm that you want your records to be sent to Ciitizen, you should confirm that you want your records sent to Ciitizen, unless you have changed your mind. (After all, it is YOUR right to your records that Ciitizen is helping you to exercise—so it is not surprising that providers may want to make sure that you authorized the records request.) However, if the provider calls and wants to send your records directly to you instead of Ciitizen – or if they call to tell you they won’t honor the request, or if they send you a bill for the records, or push back in any way – please contact us at email@example.com so we can help successfully resolve this.
Q: Will my records be complete?
A: Your right under HIPAA is to ALL of your health records maintained by your healthcare provider, and the request to your provider states this clearly. We review your records when they come in to make sure they contain information that is customary for a patient with your health history – however, we cannot know for sure whether your provider has sent us all of the health record information that they have about you. Please check your records and let us know if you think something is missing.
Q: What if a provider is refusing to honor a records request or is charging too much for the records?
A: On occasions, providers refuse to comply with the HIPAA right of access by refusing to send records or by charging too high a fee. This could happen for a variety of reasons, but we are seeing higher compliance. For example, see Ciitizen’s Patient Record Scorecard. We escalate your requests to higher level officials at the provider in order to do all that we can to make sure your provider complies with HIPAA – but we don’t have the power to enforce the law against them. If we are unable to get one of your providers to comply with HIPAA after 45 days, we will cease following up on that record and let you know next steps on how you can pursue it with your provider directly. It’s possible in some cases that the records may need to be sent to you first – and then to us for population in your Ciitizen account; if that’s the case, we will provide you with assistance, including covering any costs involved in getting these records to you and then on to us. We can also advise you about how to file a complaint with federal regulators if you want to do that.
Q: I have received a bill from my provider for the records Ciitizen requested. What should I do next?
A: Ciitizen uses the HIPAA right for individuals to be able to get copies of their health information in order to populate your Ciitizen account. Because this is your right of access, and the requests are submitted on your behalf, occasionally a health care provider may send you a bill for your records. (HIPAA places limits on what fees can be charged to patients – and many providers give patients copies of their records for free; however, the law does permit a reasonable, cost-based fee to be charged.) Please promptly send the bill to firstname.lastname@example.org so we can make sure it is compliant with HIPAA and then Ciitizen will pay the bill on your behalf. Your Ciitizen profile is free for your use, and Ciitizen pays any HIPAA-compliant fees related to the release of your records from a provider.
Q: Will the records sent to Ciitizen per my request include sensitive information?
A: Your HIPAA rights extend to all information in the health record except for notes from psychotherapy sessions that are kept separate from other health records (which is not all mental health information – just the notes of a psychotherapy provider during a psychotherapy session, frequently maintained separately from other health records). However, state laws often require additional consent before sensitive information like HIV test results, mental health or genetic information can be released, even to the patient. As a result, when you put in your health records requests as part of onboarding to Ciitizen, you will need to specify whether you are comfortable with having this sensitive information shared with Ciitizen. Once this information is in your profile, you have the right to decide whether or not to share any of your health record information with any third parties. If you have any questions, please reach out to email@example.com.
Q: I want to make sure the information in my Ciitizen profile is current – do I have to submit a new request every time I go back to my medical provider?
A: To check the status of a pending records request or request an update to your existing records, sign in to your Ciitizen profile, select the provider you would like to view to see the status, and then, if you’ve been to that provider recently, you can choose “Yes, update my records” to request a records update.
Q: I signed up on the ciitizen.com website, where’s my invite?
A: We are inviting beta users off of our waitlist in waves to ensure we can provide the best support to our users, so there may be a delay. We greatly appreciate your patience. If you have any questions, feel free to reach out to firstname.lastname@example.org.
Q: How much does it cost to join Ciitizen?
A: Ciitizen does not charge users and the service is free for all patients.
Q: What is your business model – how do you make money?
A: Ciitizen is free to patients. If you choose to consent to share your records for research, Ciitizen uses our patent-pending machine learning (ML) engine to translate the thousands of pages of your health records and creates a research-ready summary of your information. We call this the Ciitizen Research Summary. When you consent to allow researchers to access your summary, Ciitizen will receive a fee from that research organization. The Ciitizen Research Summary creates efficiency for researchers, reducing their cost and labor to make patient information research-ready. Ciitizen will only ever grant researchers access to summaries of Ciitizen users who have consented to share their information.