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Newborn Screening Ontario
About Screening

Screening FAQ

Here are some frequently asked questions about the process of newborn screening in Ontario. If you have a question that is not addressed here, please do not hesitate to contact us.

  • Why should healthy babies have newborn screening?

    Newborn screening is important for all babies, even those that appear healthy, because many of the diseases screened for are not apparent at birth. Newborn screening allows early detection of these diseases so that treatment can begin before problems occur, leading to better outcomes for babies with these rare diseases. To learn more about the importance of newborn screening, please click here.

  • What tests are done?

    Newborn screening measures a number of markers in a baby’s blood that can be either increased or decreased if a baby has certain diseases. Newborn Screening Ontario (NSO) tests babies for 29 diseases.

    Throughout 2017, screening for Critical Congenital Heart Disease (CCHD) using a point-of-care test called pulse oximetry will also begin.

    The diseases screened for are carefully chosen to make sure that a baby’s health will be improved by making the diagnosis as early as possible in the newborn period. Early detection through newborn screening can prevent serious health problems and even save lives.

  • Can parents decline newborn screening?

    Newborn screening is considered standard of care for all babies and is highly recommended. Newborn screening is not mandatory in Ontario. Any decision to decline testing should first be discussed with a health care provider. A decision to decline newborn screening should be documented in the baby’s medical record, and parents may be asked to sign the decline form on the newborn screening card. To learn more about the newborn importance of newborn screening, please click here.

    Every year, about 200 babies in Ontario are born with one of the diseases that newborn screening blood spot testing looks for and about 400-450 babies are born with Critical Congenital Heart Disease (CCHD). Most of the parents of these babies had no idea their baby could have one of these diseases. These babies have the chance to live longer, healthier lives because of newborn screening.

  • Can babies adopted from another country have newborn screening?

    Yes. The baby’s family physician or pediatrician can arrange the newborn screening test. Please keep in mind that the newborn screen is most accurate in the newborn period, and most of the diseases become apparent in early infancy.

  • A baby is sick and the physician would like to rule out a disease. Is newborn screening the best test?

    No. Newborn screening is a screen, and is not a substitute for diagnostic testing. Diagnostic testing is recommended if an infant is showing any signs or symptoms of one of the conditions on the newborn screening panel.

    If you are a health care provider and are concerned that a baby is at increased risk for or is symptomatic of one of the diseases screened, please contact us  so we can bring this to the attention of our laboratory.

  • Do parents have to pay for newborn screening?

    Currently, newborn screening is free for all babies born in Ontario, including those who are not residents and do not have OHIP coverage.

  • When a baby has a family history of a disease, is newborn screening the best test for that disease?

    No. Newborn screening is a ­screen only, and cannot replace diagnostic testing. If there is a significant family history of a disease (for example, an affected brother or sister), special diagnostic testing should be performed to rule out that disease.

    If a baby has a significant family history of one of the diseases screened, please contact us.

  • What measures does Newborn Screening Ontario take to ensure that patient information is secure?

    Newborn Screening Ontario (NSO) has implemented multiple safeguards to ensure the security and accuracy of the personal health information collected as part of the newborn screening process.

    All personal health information is stored within the baby’s record in our electronic information management system. Protected by network firewalls and login/password access, the system is accessible only to NSO staff and it allows privileges to be set for users based on their role in the program, thereby limiting access to information on a “need to know” basis. The system also provides tools for ensuring accuracy, identifying errors, auditing, and specimen tracking, designed to meet privacy requirements and laboratory standards.

    NSO is located at the Children’s Hospital of Eastern Ontario (CHEO) and is therefore supported by the robust IT infrastructure in place and well defined policies and procedures around access control and appropriate use of information. Our facilities and storage areas are secure, requiring key and swipe card access. For more information about privacy and confidentiality, please click here.

  • Why are the newborn screening samples stored?

    The main reason newborn screening samples are stored is to ensure quality screening for all babies born in Ontario, that is, to make sure that the newborn screening system and laboratory tests are working properly. Newborn Screening Ontario (NSO) strives to ensure that every baby is offered newborn screening, and that every baby with one of the diseases tested for is picked up in the newborn period so that treatment can begin. Because newborn screening is only a screening test and is not diagnostic, it may not always pick up every baby with one of the diseases. The stored samples help us improve our testing to try to make sure we don’t miss any babies who need early treatment.

    In order to pick up as many babies with the diseases as possible, NSO regularly checks the screening cut-offs and decides what the normal ranges are for the markers measured. The stored samples assist NSO in performing this task.

    If a baby with a negative (“normal”) newborn screen is diagnosed with one of the diseases we screen for, the baby’s stored sample can be tested again. This helps NSO try and figure out why the baby was missed in the newborn period, and potentially stops another baby from being missed in the future.

    Please click here for more information about the storage of newborn screening samples.

  • What happens to the newborn screening sample when testing is complete?

    At the present time in Ontario, samples are stored for 19 years, as they have traditionally been regarded as part of a child’s medical record. The primary purpose of the sample is for newborn screening. However, other secondary uses are possible, including:

    1. Quality control and quality assurance within the Newborn Screening Ontario (NSO) laboratory (i.e. ensuring that the laboratory and its testing are functioning properly);
    2. Retesting of the sample to assist in making a diagnosis and at the request of health care providers involved in the care of the baby;
    3. Usage after a legal warrant or court order (e.g. by the Coroner’s office for the investigation of a sudden infant death);
    4. Release of a portion of a sample to a third party with the written consent of the individual or their surrogate decision maker (usually a parent);
    5. Fully de-identified samples may be used for research approved by a research ethics board, and in compliance with the provisions in the Personal Health Information Privacy Act (PHIPA). Identified samples can only be used for research with the written consent of the individual or their surrogate decision maker.

    For more information about the storage and secondary use of newborn screening samples, please click here.

     

  • Can newborn screening samples be used for research?

    There are currently only two ways that a baby’s samples can be used for research:

    1. Research that needs the baby’s sample linked to the baby’s identity. This could only happen after obtaining written consent from the child (if they were old enough to give consent) or from their surrogate decision maker (a parent or guardian). The study would have to be approved by a research ethics board.
      • The parent/guardian and/or child would be fully informed of the purpose of the research as well as the pros and cons of participating in the research.
      • The parent/guardian and/or child would have the ability to choose to participate or decline to participate in such a research study.
      • If the parent/guardian and/or child declined – the child’s sample would NOT be used in the research.
      • A research ethics board is a group of people representing the fields of medicine, science, ethics and the general public. A lay person sits on this board to ensure that the research being done is in the best interest of society. The remainder of the committee make sure the research is scientifically sound and does not violate ethical principles.
    2. Research that requires the baby’s sample may be allowed without obtaining the parent/guardian and/or child’s consent only if:
      • The baby’s sample is de-identified. This means that the portion of the child’s sample used for such a study can NOT be traced back to the child in any way (e.g. all identifying information is removed from the sample: name, date of birth, health card number, address, postal code, mother’s name, birth hospital, etc.). This means no one, including the researcher, the government or insurance companies, will be able to link the research results to the baby or their family.

      and 

      • The study has been approved by a research ethics board.

    Please click here to learn more about the storage and secondary uses of newborn screening samples.

  • What happens when a researcher wants to access stored samples for research?

    A researcher who wants to access to stored samples for a study must submit a written request to Newborn Screening Ontario (NSO) and gain approval from the Children's Hospital of Eastern Ontario (CHEO) and their own institutional research ethics board (REB). An application for a research study’s approval through a REB is a lengthy and rigorous process designed to guarantee the privacy and best interests of the research subjects (the babies whose samples will be used for the study). Details on the REB application process at the Children’s Hospital of Eastern Ontario can be found at: www.cheori.org.

    For more information about the storage and secondary use of newborn screening samples, please click here.

     

  • Could the use of stored samples change in the future?

    Samples may be used for other purposes in the future, but only as authorized by PHIPA or any other applicable law, and following review by the Ministry of Health and Long Term Care with the advice of the NSO Advisory Council. Please click here to learn more about how Newborn Screening Ontario (NSO) is governed. We will communicate any changes in sample storage and use via this website, and, as always, we will continue to protect the privacy of all babies screened.

  • How do parents have their baby’s sample returned or destroyed?

    To request destruction or release of sample from Newborn Screening Ontario, the parents/legal guardian/or child must complete a request form or must attend NSO offices with originals of the required identifying documents to complete the forms in person. An original copy of the form is required to complete the request.

    A task force of the Ontario Newborn Child Screening Subcommittee was created in 2008 to consider issues related to blood spot storage and use. A minimum storage length of 5 years was recommended to provide effective screening testing and quality assurance for the program. This length of time was recommended for a number of reasons, most importantly because the diseases targeted by the screening program would be expected to cause health problems for an affected child by the time they were 5 years of age. Therefore storing samples for this length of time would allow investigation and possible re-testing if a child was diagnosed with one of the conditions on our panel following a negative newborn screen. It would also allow confirmation of whether or not a screening sample was obtained on the child. For this reason, the task force also recommended that an individual (or their parents or guardians) be able to request return or destruction of the sample after this five year period.

    If parents choose to have their baby’s sample destroyed or released and their child is under five years of age, this request will be honoured. If parents wish to have the sample destroyed after the child’s fifth birthday, they need to make a request at that time. To learn more about the storage and secondary use of dried blood spot samples and to view NSO's procedure, please click here.

    Parents/guardians who have further questions or concerns about the potential use of their child’s stored sample are encouraged to contact us.

  • How is a disease nominated for newborn screening in Ontario?

    There is a formal process in Ontario for individuals or organizations to nominate a condition for newborn screening. The process begins with the completion of a simple nimination form. Please visit our Test Addition Process page for more information.