Eli Supplemental Newborn Screening Consent Form 

Effective October 23, 2018

OVERVIEW

This Consent Form describes the benefits, risks, and limitations of newborn screening and how your baby’s information and specimen sample will be used after the testing is completed. The testing is performed by Baebies, Inc. in a laboratory that meets the quality control standards set by the Clinical Laboratory Improvement Amendments [CLIA number 34D2155110] to perform newborn screening and other testing.

This is a voluntary test that you are choosing for your baby. You may wish to consult with your health care provider or a genetic counselor on behalf of your baby before ordering the test. By completing this Consent Form, you indicate that you have chosen to have your baby undergo a panel of tests collectively called Eli Supplemental Newborn Screening. The purpose of this document is to provide you with information about the test. If you agree to have Eli Supplemental Newborn Screening you will be asked to accept this form, indicating that you understand the information provided and wish to have testing performed for your baby.

TEST DESCRIPTION

In the United States, nearly every baby is screened for a set of medical conditions shortly after birth, commonly known as newborn screening. This public health program helps identify babies who may be at an increased risk for serious but treatable conditions in childhood. Most babies who are born with these conditions appear healthy and symptoms may not present right away. Newborn screening can help identify a condition in a newborn baby before the condition progresses or causes damage. Newborn screening helps parents and pediatricians and hospital health care workers identify conditions early in life, so that treatment can be started as early as possible.

Relevant public health authorities in each state determine which conditions will be screened in newborn babies, pursuant to public health laws and policies; therefore, different states test for different conditions. Most states screen for at least the conditions included on the federal government’s “Recommended Uniform Screening Panel” (RUSP). States may test for additional conditions on a state-by-state basis. Typically, a blood sample is collected while mother and baby are still in the hospital, using a “dried blood spot card” sample that is sent to your state’s public health laboratory for testing.

The purpose of Eli Supplemental Newborn Screening is to identify specific conditions that may impact your baby’s health status beyond the conditions screened for in your state’s public health program. Eli Supplemental Newborn Screening uses three different test types:

Genetic testing is any analysis that looks at your baby’s genetic makeup, that is, your baby’s DNA. Your baby’s DNA is contained in both the saliva and dried blood spot sample that Baebies collects. Eli Supplemental Newborn Screening uses advanced DNA sequencing for many of the conditions on the Eli Supplemental Newborn Screening panel, to analyze only your baby’s genes related to the conditions on the test panel. Eli Supplemental Newborn Screening tests for mutations both for inherited conditions and mutations that occur only in egg or sperm cells, called de novo (new) mutations. De novo genetic changes cannot be detected by carrier screening. For this reason, Eli Supplemental Newborn Screening can provide useful information about your baby’s health, even if you have had extensive carrier screening or prenatal testing.

Biochemical testing looks for specific enzymes, proteins, metabolites or other biological indicators that are associated with one of the conditions addressed by the test. Many conditions, including changes caused by a genetic change in your baby’s DNA, can be found with biochemical testing.

Infectious disease testing seeks to find the DNA or other biological indication of an infectious agent present in your baby’s blood or saliva.

When you order Eli Supplemental Newborn Screening you will be asked to provide certain demographic and family history information on behalf of your baby. You should share complete and accurate medical history and details regarding any conditions you or your baby may have or that you may be aware of in your family. You will be contacted if there are questions about the information you provided. This information will be reviewed by an independent team of physicians and genetic counselors to confirm that this test is appropriate for your baby. If the physician determines that the testing is appropriate for your baby, the physician will order the test for your baby. Like the public health newborn screening program, Baebies collects a dried blood spot sample. In addition, Baebies asks for a saliva sample to broaden the number of conditions that can be tested. You will ask your pediatrician to collect these samples at your first well-baby visit using a sample collection kit that Baebies will provide. You will also be asked to provide additional health and demographic information to facilitate the testing process when you receive the kit. The kit includes detailed instructions for sample collection. You and your healthcare provider will also be asked to fill out a form and send the sample specimen to Baebies’ laboratory for testing and analysis. Once the kit is returned, Baebies will perform testing as described in this Consent Form.

You will receive an update when your baby’s results are available. The physician who ordered your baby’s test will review and sign off on your baby’s results, and then those results will be sent to you. Genetic counseling will be available to you at any time during this process and is highly recommended if your baby has a positive family history for any of the conditions covered by this test. If you have any questions about the testing, you may contact our licensed physician group and genetic counseling service Genome Medical using the contact information on the www.eliscreen.com website. Genome Medical offers genetic counseling consults through telehealth technologies and telephone consultations and is included in the cost of Eli Supplemental Newborn Screening. Genetic counseling is voluntary; you may seek genetic counseling pre- or post-test either based on your own interest, or because your healthcare provider recommended you do so.

A complete list of the conditions and corresponding genes, where appropriate, may be found at www.eliscreen.com. Baebies will not perform any other analysis on your baby’s sample without your consent.

BENEFITS

For expecting and new families, Eli Supplemental Newborn Screening offers the knowledge you need to make informed decisions about your baby’s health, and peace of mind so you can embrace the joy of this exciting time. Eli Supplemental Newborn Screening helps identify additional treatable conditions, enabling earlier treatment for better health outcomes. Discovery of the presence of one of the tested conditions can be very important to your baby’s health. In many cases, early detection can have a profound effect on the health of a baby with one of the conditions on the test panel. This information may help you and your healthcare provider make more informed decisions for your baby at an early age and at a more treatable stage of disease progression. Understanding the genetic cause for some conditions in this test may also provide information about whether the symptoms will become more severe or if other symptoms could appear, as well as potentially allowing for specific treatments to be initiated. This testing may also cause you to discover important information about your baby’s health or disease risk, including risk factors for hereditary disorders other than the conditions included in the screening. However, for some of these conditions, there are currently no treatments, although there may be clinical trials or other potential help for your baby even if there is no FDA-approved therapy.

TEST RESULTS

When your baby’s test is processed, results will be observed and compared to standards defined for each test. Results can be influenced by newborn age, ethnicity, difficulty with the birthing process, and other factors. Based on currently available information in the medical literature and in scientific databases, Baebies will determine whether any of these observations are likely to be related to one of the conditions on the test. The interpretation of this test reflects what is known at the time the report is issued and the then-current standards of practice. In some instances, the interpretation may change as new scientific information becomes available.

Your test results will be reviewed by Baebies’ laboratory and a report will be produced. The report may contain results that indicate that your baby may potentially have one of the conditions covered by the test panel, may have results that are unclear at this time, or may state that there are no specific findings of concern. If your baby is found to potentially have one of the conditions covered by the test panel, or inconclusive results, you and/or your healthcare provider will be provided with genetic counseling by Genome Medical. Genome Medical may also provide the report to your pediatrician or other designated healthcare provider. Genetic counseling is the process of discussing genetic information and concerns, including personal and family history, genetic disease concerns, and the benefits and limitations of both genetic testing and potential test results, with a trained clinical genetics professional. During a genetic counseling session, you and your genetic counselor may: you have about possible genetic conditions or the risk of a genetic condition in you or your family; explore genetic testing options by helping you understand what tests are available and what testing can and cannot tell you, and provide guidance to help you decide if you would like to pursue genetic testing; discuss the risks and benefits of genetic testing related to prevention or therapeutic medical treatment to reduce the risk of disease, including the potential psychological and social impact of genetic conditions or genetic test results; explain results of any genetic testing you have had and what the results mean for you and your family; and discuss the Genetic Information Nondiscrimination Act (GINA) of 2008 that prohibits health insurer or employer discrimination based on genetic testing, with some exceptions. Your genetic counselor can clarify any concerns you have about genetic testing.

If your baby is found NOT to have any of the conditions on the test panel, and if there are no inconclusive test results, a report will be sent to you directly and to Baebies’ physician and genetic counseling partner, Genome Medical, for retention.

As many different genes are sequenced for the genetic testing portion of the test panel, this may reveal some findings not directly related to the conditions included in Eli Supplemental Newborn Screening, called “secondary” or “incidental” findings. Some of these incidental findings may have clear and immediate significance for your baby’s health or the health of family members, while others may suggest potential for increased risk for your baby in the future. Incidental findings that could potentially cause a childhood onset disorder where medical intervention can prevent or decrease the effect of a disease will always be included in the report. The report will not include information about genetic changes that have been found to cause a small increase or decrease in the risk for common health problems (high blood pressure, arthritis).

LIMITATIONS AND RISKS

Negative results do not guarantee that you or your baby will be healthy. No single test (or combination of tests) can detect all of the possible conditions that could affect your baby’s health. There are three specific risks related to newborn screening: 1) the risk of a false negative; and 2) the risk of a false positive; and 3) the risk of an inadequate or damaged sample. A false negative means that Eli Supplemental Newborn Screening includes a test for a specific condition and while the baby may later be found to have that condition, Eli Supplemental Newborn Screening did not detect the condition. This may cause appropriate treatment to be foregone or delayed and may provide a false sense of security to the parents and healthcare providers. A false positive means that Eli Supplemental Newborn Screening included a test for a specific condition, and the test results indicate that your baby may have that condition but is found later NOT to have that condition. This may cause both anxiety and additional testing expense. In no case should initiation of therapy be based solely on Eli Supplemental Newborn Screening; confirmatory testing should always be conducted prior to making a final decision on initiation of treatment. Finally, Baebies may detect that your baby’s sample has been improperly collected or has been damaged in transit or receipt. This will result in a request by Baebies for an additional sample.

Depending on the type of test, there are various reasons for false negatives and false positives. For genetic testing, the genes that are included in the test may have areas not completely covered by the test, so there may be disease-causing genetic changes present that were not seen or reported; a negative result on this test does not completely rule out the presence of one of these conditions (i.e. a false negative is possible). The test will also not report changes that have not been classified as “pathogenic” or “likely pathogenic”, which means that they are known to cause a disease, according to the laboratory standards and guidelines published by The American College of Genetics and Genomics. In addition, your baby’s DNA may include a mutation in a gene or a targeted area of a gene that is not known to cause disease. Baebies and its physician and genetic counseling partner may decide to report this finding, even though it may turn out that your baby does not have the specific condition on the test panel (i.e., a false positive).

For genetic testing the scientific understanding of genes and the relationship to human disease and therapy is evolving and incomplete. Finding a specific condition or a genetic variant does not necessarily predict the onset, severity, or spectrum of human disease with any degree of certainty. Our ability to provide these details depends on the specific condition, gene, and variant identified. Similarly, the absence of a sequence variant may reduce the likelihood of being affected with a specific condition but does not guarantee such outcome. Therefore, the identification of a genetic variant may not assist in predicting the severity of the condition in your baby. There is also a risk that you will learn genetic information about your baby that is not directly related to the reason for ordering the test. This information might relate to diseases with symptoms that may develop in your baby in the future as well as conditions that have no current treatment. As a result, there may be little information about a certain disease or condition identified in your results. It is possible that even if this test identifies an underlying cause for a condition indicated for your baby, this information may or may not help in changing medical management or treatment of disease. It is also possible that this test will not detect the cause of any anomaly identified in your baby’s sample.

Testing may not generate accurate results for various other reasons including, but not limited to inadequate sample quantity, sample quality, inadvertent sample mix-up or technical problems. Your baby’s test results may suggest additional testing be conducted for further confidence or confirmation.

SAMPLE RETENTION AND SAMPLE AND DATA USE

Baebies will maintain reasonable and appropriate safeguards to protect the privacy and security of your baby’s sample specimen and information associated with or developed from the sample. Baebies will retain your baby’s sample for the maximum duration permitted under applicable law or regulation and then will destroy the sample. Normal uses of samples and related data at Baebies include: testing for the specific panel purchased using multiple methods, including repeat testing; proficiency testing required to maintain lab certification and to improve test quality; development and validation testing at Baebies and at Baebies’ test development partners to add new tests or test methods to the test panel.

CONSENT FOR OPTIONAL RESEARCH

You may also consent to the retention and use of your baby’s sample specimen or information related to or derived from it for research purposes, including research collaborations with third parties. Such research may include retention of your baby’s sample and information in Baebies’ research database. You are not required to consent to these research activities in order to obtain Eli Supplemental Newborn Screening for your baby and your decision not to allow these research activities will not affect your test results. You will have the opportunity to opt in to such research activities in a separate HIPAA authorization form.

COMMUNICATIONS

You agree to receive electronic communications from us in connection with Eli Supplemental Newborn Screening, including any necessary follow-up communications, as well as delivery of certain test results. If you prefer other communication methods, please contact us. By executing this Consent Form, you agree that all digital agreements, notices, disclosures, consents, and other communications that Baebies provides to you meet any legal requirements that such communications be in writing.

PARENTAL/GUARDIAN CONSENT

By checking the box below, you indicate your acknowledgement and affirmation of the following:

  • I have read, reviewed, and understand the contents of this form.
  • I have received sufficient information from the Eli website, a physician, genetic counselor, and/or other healthcare provider that described, in words that I understood, the nature of the testing that I may undergo, and I have had the opportunity to have all of my questions answered.
  • I understand the processes associated with Eli Supplemental Newborn Screening, including the nature and purpose of the test to be performed; the risks, benefits, and limitations of genetic, biochemical, and infectious disease testing; the fact that there may be false positive or false negative results and the level of certainty that a positive result serves as a predictor for a specific condition; and the meaning of the results.
  • I understand that Baebies or a third party retained by Baebies will attempt to contact me with the results of the testing, that the testing Baebies will perform does not replace the interpretation of results and medical recommendations of a physician, and that it is solely my responsibility to discuss my results with my health care provider.
  • I will confer with my baby’s physician prior to taking any action in connection with the cure, treatment, mitigation, or prevention of any disease or other medical condition.
  • I acknowledge and understand that testing ordered through this site is my financial responsibility and I will be unable to submit any invoice or claim to an insurer, health plan, or other payor such as Medicare or Medicaid.
  • I am 18 years or older and have legal authority to consent to the test on behalf of the baby for whom I am registering and purchasing Eli Supplemental Newborn Screening.

How to Contact Us

If you have any questions or comments about this Privacy Policy, or if you would like to exercise one of your rights under this Privacy Policy, you may contact us by email at eliCares@eliScreen.com or in writing to: eliCares, 615 Davis Drive, Suite 800, Morrisville, North Carolina, 27560 Attn: Privacy Officer.