Newborn Genetic Screening

TMA and Texas Pediatric Society (TPS) have partnered to provide input to the Health and Human Services Commission (HHSC) and the Department State Health Service (DSHS) regarding the expansion. A joint nbs physician advisory team has provided significant feedback and guidance to DSHS regarding implementation of the expanded program as well as identifying the areas still needing attention. After a very successful test period of the new technology, DSHS announced an earlier-than-anticipated start to the full expansion in November 2006.

The council seeks to formalize policy regarding newborn genetic screening.

Recommendation 1 :  That the Texas Medical Association approve the definition of a comprehensive newborn genetic screening program as a statewide continuum of services coordinated by the Texas Department of State Health Services, including education, screening, follow-up, diagnosis, treatment, and management of those conditions identified in the program. Other program components include an accountable stakeholder group, an independent clinical advisory group, use of a regional specialty services process, and use of evidence-based measures defined as science published in peer-reviewed journals and supported by a consensus of experts. Ongoing and continuous quality evaluation and improvement is critical and must protect patient confidentiality and ethical handling/storage of dried blood spots. Education efforts should include parents/families, clinicians, and hospitals.

Recommendation 2 :  That TMA request the American Medical Association (AMA) to coordinate efforts with appropriate entities, such as March of Dimes, American College of Obstetrics and Gynecologists, American Academy of Family Practice, and American Academy of Pediatrics, to develop and implement a process for moving the standard of providing patient education regarding newborn genetic screening from the time of the infant's birth to the prenatal period.

Relevant AMA Policy:

H-245.973 Standardization of Newborn Screening Programs - Our AMA: (1) recognizes the need for uniform minimum newborn screening (NBS) recommendations; and (2) encourages continued research and discussions on the potential benefits and harms of NBS for certain diseases. (CSAPH Rep. 9, A-06)

D-245.996 Standardization of Newborn Screening Programs - Our AMA will monitor developments in the effort to implement a uniform minimum newborn screening panel, including status of the pending Health Resources and Services Administration report entitled Newborn Screening: Toward a Uniform Screening Panel and System , and the ongoing expansion of required tests by each state. (CSAPH Rep. 9, A-06)

D-425.995 Newborn Screening: Challenges for the Coming Decade - Our AMA will: (1) support the report from the Newborn Screening Task Force, "Serving the Family from Birth to the Medical Home.  A Report from the Newborn Screening Task Force," and recognize the authors of this report as the major stakeholders in the field of newborn screening; (2) support the Health Resources and Services Administration, Centers for Disease Control and Prevention, and the American College of Medical Genetics as they study the process of standardization of outcomes and guidelines for state newborn screening programs; and (3) monitor developments in newborn screening and revisit the topic as necessary. (CSA Rep. 4, I-01)

D-480.989 Multiplex Genetic Testing in Newborns - Our AMA will continue to monitor developments in newborn screening and revisit this issue should the use of DNA-based newborn screening tests be more widely adopted by states. (CSA Rep. 3, A-03)

E-2.139 Multiplex Genetic Testing - Multiplex testing-where tests are offered for several different medical conditions in a single session-presents a series of challenges to adequate communication between the patient and the physician.  It increases the total number of marginally indicated or non-indicated tests, thereby bolstering the rate of false results.  These results may lead to psychological stress and misinformed life-altering decisions, and may also impact the ability of a physician to obtain informed consent. Multiplex testing and its resultant information may also have widespread societal implications that include discriminatory practices against not only individuals but specific ethnic groups that have been designated "at risk" populations.  Before such tests reach health care providers, clinics, and drugstores, the ethical and social implications of these tests must be well-understood, and careful restrictions and regulations must be established.  The following guidelines are offered on the future possibilities of multiplex genetic testing: (1) Physicians should not routinely order tests for multiple genetic conditions. (2) Tests for more than one genetic condition should be ordered only when clinically relevant and after the patient has had full counseling and has given informed consent for each test. (3) Efforts should be made to educate clinicians and society about the uncertainty surrounding genetic testing. (IV, V) Issued June 1998 based on the report "Multiplex Genetic Testing," adopted December 1996 (Hastings Center Report. 1998; 28(4): 15-21)

E-2.138 Genetic Testing of Children - Genetic testing of children implicates important concerns about individual autonomy and the interest of the patients.  Before testing of children can be performed, there must be some potential benefit from the testing that can reasonably be viewed as outweighing the disadvantages of testing, particularly the harm from abrogating the children's future choice in knowing their genetic status.  When there is such a potential benefit, parents should decide whether their children will undergo testing.  If parents unreasonably request or refuse testing of their child, the physician should take steps to change or, if necessary, use legal means to override the parents' choice.  Applying these principles to specific circumstances yields the following conclusions: (1) When a child is at risk for a genetic condition for which preventive or other therapeutic measures are available, genetic testing should be offered or, in some cases, required. (2) When a child is at risk for a genetic condition with pediatric onset for which preventive or other therapeutic measures are not available, parents generally should have discretion to decide about genetic testing. (3) When a child is at risk for a genetic condition with adult onset for which preventive or other therapeutic measures are not available, genetic testing of children generally should not be undertaken.  Families should still be informed of the existence of tests and given the opportunity to discuss the reasons why the tests are generally not offered for children.(4) Genetic testing for carrier status should be deferred until either the child reaches maturity, the child needs to make reproductive decisions, or, in the case of children too immature to make their own reproductive decisions, reproductive decisions need to be made for the child. (5) Genetic testing of children for the benefit of a family member should not be performed unless the testing is necessary to prevent substantial harm to the family member. When a child's genetic status is determined incidentally, the information should be retained by the physician and entered into the patient record.  Discussion of the existence of this finding should then be taken up when the child reaches maturity or needs to make reproductive decisions, so that the individual can decide whether to request disclosure of the information. It is important that physicians be consistent in disclosing both positive and negative results in the same way since if physicians raise the existence of the testing results only when the results are positive, individuals will know what the results must be.  This information should not be disclosed to third parties.  Genetic information should be maintained in a separate portion of the medical record to prevent mistaken disclosure. When a child is being considered for adoption, the guidelines for genetic testing should be the same as for other children. (IV) Issued June 1996 based on the report "Testing Children for Genetic Status," adopted June 1995.

TMA House of Delegates: TexMed 2007