Biomedical subjects

Michele A Lloyd-Puryear

Publications and source records attributed to Michele A Lloyd-Puryear.

11 recordsLinked to original sources

PubMed2006

American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come?

The partnership of the Health Resources and Services Administration (HRSA)/Maternal and Child Health Bureau (MCHB) and the American Academy of Pediatrics (AAP) for improving health care for all children has long been recognized. In 1998, the establishment of the Newborn Screening Task Force marked a major initiative in addressing the needs of the newborn screening system. At the request of HRSA/MCHB, the AAP convened the task force to ensure that pediatric clinicians assumed a leadership role in examining the totality of the newborn screening system, including the necessary linkage to medical homes. The task force's report, published in 2000, outlined major recommendations for federal, state, and other national partners in addressing the identified barriers and needed enhancements of the care delivery system. Today, manifestations of the task force's recommendations are evident, many of which occurred under the leadership of HRSA/MCHB and the AAP. These activities are detailed in this article, with a discussion of future progression toward a quality, consistent, coordinated system of care for children identified with positive newborn screening results, their families, and the child health professionals who care for them.

Child Health Services↗

PubMed2006

Financing state newborn screening programs: sources and uses of funds.

BACKGROUND: Financing for newborn screening is different from virtually all other public health programs. All except 5 screening programs collect fees as the primary source of program funding. A fee-based approach to financing newborn screening has been adopted by most states, to ensure consistent funding for this critical public health activity. METHODS: Two types of data are reported here, ie, primary data from a survey of 37 state public health agencies and findings from exploratory case studies from 7 states. RESULTS: Most of the programs that participated in this survey (73%) reported that their newborn screening funding increased between 2002 and 2005, typically through increased fees and to a lesser extent through Medicaid, Title V Maternal and Child Health Services Block Grant, and state general revenue funding. All of the responding states that collect fees (n = 31) use such funds to support laboratory expenses, and most (70%) finance short-term follow-up services and program management. Nearly one half (47%) finance longer-term follow-up services, case management, or family support beyond diagnosis. Other states (43%) finance genetic or nutritional counseling and formula foods or treatment. CONCLUSIONS: Regardless of the source of funds, the available evidence indicates that states are committed to maintaining their programs and securing the necessary financing for the initial screening through diagnosis. Use of federal funding is currently limited; however, pressure to provide dedicated federal funding would likely increase if national recommendations for a uniform newborn screening panel were issued.

Data Collection↗

PubMed2006

Naming and counting disorders (conditions) included in newborn screening panels.

The rapid introduction of new technologies for newborn screening is affecting decisions about the disorders (conditions) that are required or offered as an option through public and private newborn screening. An American College of Medical Genetics report to the Health Resources and Services Administration summarized an extensive effort by a group of experts, with diverse expertise within the newborn screening system, to determine a process for selecting a uniform panel of newborn screening disorders. The expert panel did not propose a mechanism for counting or naming conditions. Differences in the nomenclature used to identify disorders have resulted in difficulties in developing a consensus listing and counting scheme for the disorders in the recommended uniform panel. We suggest a system of nomenclature that correlates the screening panel of disorders recommended in the American College of Medical Genetics report with the screening analyte and accepted standardized nomenclature. This nomenclature system is proposed to remove ambiguity and to increase national uniformity in naming and counting screening disorders.

Consensus↗

PubMed2006

Enhancing communication in the 21st century.

Quality communication is a critical component in all aspects of public health and clinical care. The quality of the process of communication between the patient/family and the physician affects the quality of the patient/family-physician relationship, patient behavior, and health outcomes. Advances in communication and information technologies can enhance the quality of communication, not only between patients/families and their physicians but also between clinicians and public health professionals. Communication and integration between the domains of personal health and public health have the potential to improve the delivery of health care and public health services and to yield the desired seamless continuum of health care. This article discusses some of the advances and efforts in the use of information technology to facilitate enhanced communication for quality health care.

Adult↗

PubMed2005

Understanding newborn screening system issues with emphasis on cystic fibrosis screening.

Newborn screening (NBS) includes biochemical testing for certain medical conditions that can cause devastating consequences if left undetected and untreated. Mandated screening requires a complex support system to ensure its effectiveness. There are 51 separate NBS programs in the United States, all with different administrative structures and screening panels. Only 8 states mandate screening for cystic fibrosis (CF) and 2 of these are just beginning. Optional NBS for CF reaches significant numbers of newborns in 3 other states but the CF screens are only projected to reach about 20% of the newborn population in 2005. Forthcoming recommendations for NBS screening from the federal Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children (ACHDGDNC) will impact decisions about NBS panels and professional and consumer advocacy will play an important role in deciding the directions in which NBS programs move. For effective CF NBS, CF care centers will need to partner with NBS programs to ensure optimal health benefits, and programs will need to continually evaluate diagnostic and outcome data in order to refine their screening protocols.

Advisory Committees↗

PubMed2005

Attitudes about genetics in underserved, culturally diverse populations.

OBJECTIVE: New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally diverse communities. METHODS: To better understand attitudes and beliefs towards genetics and genetic testing in these groups, we conducted eight focus groups with 55 patients and health care workers in New York City and Westchester, N.Y., in English, Spanish, and Chinese. RESULTS: Focus group participants had limited understanding about genetics or genetic testing. Newborn screening was the least-known genetic issue, even among health care workers. Regardless of their cultural group, most participants expressed a desire for more information about genetics and genetic tests. Latinos and Chinese participants generally expressed positive attitudes towards genetic studies and genetic testing, with the possibility of preventing diseases cited as the main advantage. Black Americans and Non-Hispanic Whites reported mixed feelings about genetic research and genetic testing. Concerns expressed included: anxiety before receiving test results or waiting for a disease to develop, fear of genetic discrimination by health and life insurance companies and employers, not having the financial means to deal with genetic diseases in themselves or a sick child, concern that children and adults are having too many tests. Black Americans expressed the most concern for possibly harmful use of genetic information. CONCLUSIONS: Minority populations of diverse cultures have limited knowledge about genetics and genetic testing, would like to have more information, and are not well reached by the current educational approaches. Participants knew the least about newborn screening, a test that is mandatory in the New York State. While genetic knowledge by minority populations was perhaps not different from the level of knowledge of consumers in general, minority populations are at particular risk of being left behind because of historically poor access to information and services.

Adult↗

PubMed2004

Evolution of a child health profile initiative.

While information technology has proliferated and advanced dramatically in the last 10 years, the application of information technology to health care policy and delivery has not been well coordinated either among public health agencies or between the public and private health sectors. In 1998, the Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration (HRSA/MCHB) began an initiative to help facilitate assessment and prompt provision of appropriate services to improve the health of children. Twenty-five state public health programs received grants to improve integration of newborn screening and genetic services systems with other maternal and child health systems. All Kids Count--a program of the Public Health Informatics Institute--completed a qualitative assessment of state programs that were funded to develop plans for integration. The results are being translated into a business/policy case addressing the need for integration, a description of essential functions that such systems support, ultimately system requirements, and measures for evaluation. HRSA/MCHB's partnership with All Kids Count continues with a project to develop a community of practice to assist programs in moving their integrated child health information systems forward.

Child↗

PubMed2004

The near-term future for child health information systems.

The developmental process in children offers an opportunity to influence their health and well-being as adults. The information infrastructure of the future needs to support the multiple partners responsible for providing elements of the health protection and health care of children. In this partnership, public health plays simultaneously a supportive role and a leadership role. Five tasks need to guide near-term information systems thinking with respect to establishing a basis for building electronic linkages among various child health programs. First, the nation's vital records system must be reengineered to ensure that this key information asset can be integrated into other child health information systems. Second, through an appropriate governance structure, the key stakeholders in child health should endorse standards and requirements that define a longitudinal health record for children. Third, public health agencies should develop a thorough business case/value proposition that drives mutually developed and mutually endorsed requirements for the integration of presently fragmented systems. Fourth, public health should take the lead in ensuring that parents have convenient access to information that can support the coordination of their child's care and development. And fifth, provider groups and public health agencies should join research networks to study how information supports positive changes to children's health.

Child↗

PubMed2003

Examination of the communication practices between state newborn screening programs and the medical home.

BACKGROUND: As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than just testing, but also involves follow-up, diagnosis, treatment, and evaluation. As such, multiple professional and public partners need to be adequately involved in the system to help ensure success. In addition, newborn screening programs are state-based; therefore, policies and procedures vary from state to state. Historically, there has been little uniformity between state newborn screening programs. OBJECTIVE: To examine the communication practices of state newborn screening programs in the United States, particularly in relation to the medical home. METHODS: A facsimile survey of program staff in all US newborn screening programs. Survey data were collected in August 2000. RESULTS: All 51 programs participated. States were questioned about whether or not they had a procedure to identify the infant's medical home before the child's birth. Twelve states (24%) indicated that there was a procedure in place, whereas 39 states (76%) indicated that either no procedure existed or that they were unsure. In contrast, all state programs (except 1) indicated they notified the primary care physician about abnormal results and the need for follow-up. In addition, state programs reported that primary care physicians have responsibilities within the newborn screening system, particularly related to communicating with parents about screen-positive results and coordinating the collection of a second specimen. Thirty states reported that they directly notified parents of screen-positive infants of results and the need for follow-up as well. In regard to informing parents about newborn screening, 45% of states indicated that primary care physicians had some responsibility in informing parents about newborn screening. Most often, parents were informed about newborn screening just before specimen collection, and the most commonly used techniques to educate parents were informational brochures and conversation. Thirty-five states reported that they engaged in long-term tracking of infants after diagnosis confirmation. Only about half of these states provided long-term tracking of all of the conditions included in their state's newborn screening test panel. Of these 35 states that engaged in long-term tracking, 25 reported that they requested patient information from the primary care physician and/or subspecialist about ongoing treatment and follow-up. CONCLUSIONS: Newborn screening roles and responsibilities vary tremendously between states. Improvements in communication and better-defined protocols are needed, particularly between state newborn screening programs and the medical home. Many states identified the medical home as having significant responsibilities related to the short-term follow-up of screen-positive infants. Identification of the correct medical home before testing would help to reduce unnecessary time and frustration for state newborn screening programs, especially in the follow-up of infants that are difficult to locate. In addition, primary care physicians (ie, the medical home) need to have appropriate and ongoing involvement, including a mechanism to provide feedback to their state newborn screening program. This is particularly important given the adoption of tandem mass spectrometry by an increasing number of states, and the likely expansion of newborn screening in the future. Recommendations include the following: Primary care physicians should have appropriate and ongoing involvement in the newborn screening system and should be appropriately represented on state newborn screening advisory committees. States should develop protocols to identify the medical home before heelstick screening. States should work with families, primary care physicians, and prenatal health care professionals to develop well-defined systems for pretesting education of parents. All newborn screening results (both positive and negative) should be sent to the infant's medical home. If results are not received by the medical home, efforts should be made to obtain results. Medical homes and subspecialists should submit follow-up information on screen-positive infants and infants with confirmed diagnoses to the state newborn screening program, regardless of the existence of state requirements to do so, and efforts to build enhanced direct communication systems, linking state newborn screening programs to community-based medical homes, should continue.

Communication↗

PubMed2002

Genetics in primary care: a USA faculty development initiative.

The Genetics in Primary Care (GPC) project is a USA national faculty development initiative with the goal of enhancing the training of medical students and primary care residents by developing primary care faculty expertise in genetics. Educational strategies were developed for the project by an executive committee with input from an advisory committee, comprising individuals with primary care, medical education and genetics expertise. These committees identified the key issues in genetics education for primary care as (1) considering inherited disease in the differential diagnosis of common disorders; (2) using appropriate counseling strategies for genetic testing and diagnosis, and (3) understanding the implications of a genetic diagnosis for family members. The group emphasized the importance of a primary care perspective, which suggests that the clinical utility of genetic information is greatest when it has the potential to improve health outcomes. The group also noted that clinical practice already incorporates the use of family history information, providing a basis for discussing the application of genetic concepts in primary care. Genetics and primary care experts agreed that educational efforts will be most successful if they are integrated into existing primary care teaching programs, and use a case-based teaching format that incorporates both clinical and social dimensions of genetic disorders. Three core clinical skills were identified: (1) interpreting family history; (2) recognizing the variable clinical utility of genetic information, and (3) acquiring cultural competency. Three areas of potential controversy were identified as well: (1) the role of nondirective counseling versus shared decision-making in discussions of genetic testing; (2) the intrinsic value of genetic information when it does not influence health outcomes, and (3) indications for a genetics referral. The project provides an opportunity for ongoing discussion about these important issues.

Journal Article↗

PubMedDate not supplied

Newborn screening and genetic testing.

Mandated newborn screening programs for genetic and other congenital conditions for the some 4 million infants born in the United States each year have seen dramatic changes over the past decade. With the mapping of the human genome and other advances in science and technology, there will be continued challenges to and changes in these programs. Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices.

Acyl-CoA Dehydrogenase↗