General Recommendations to Support Improved Care for Individuals with SCD

Clinical Care

1. Address deficiencies in pain care during ED and other visits for persons living with SCD by establishing and widely disseminating:

• Tailored pain management plans; • Institutional pain management protocols; and • Strategies to promote use of more easily administrable pain medications.

Emergency care and related pain management protocols and strategies were not core areas of measurement under this funding. However, several subgroups have prioritized these important topics and valuable work continues in these areas. Thoughtful materials can be found in the Compendium of Tools and Resources and Model Protocol sections.

2. Health systems/institutions should universally screen individuals at risk for SCD and SCT (including immigrants and refugees, if not previously screened in their home countries) and link identified individuals to systems of care.

• The profile of people living with SCD in the United States is expanding.

Individuals with SCD are arriving who may not be identified by newborn screening in their country of origin. Greater attention must be taken to ensure that these individuals with disease are offered appropriate care.

This starts with culturally and linguistically appropriate education about

SCD and screening for the condition. While it was not in the scope of this program to fully address this recommendation, the Program encourages newborn screening programs and other applicable health care systems to address this emerging problem.

• The U.S. Department of Health and Human Services can be an important resource when working with an immigrant population. The Health and Human Service regional offices offer links to state refuge health coordinators, who may assist in improving access to services. A state coordinator list is available on the HHS regional website: https://www.acf. hhs.gov/office-of-refugee-resettlement.

3. Advocate for adequate funding for preventive clinical and social services for persons living with SCD.

• Through Program efforts to improve preventative care, teams encountered substantial barriers to accessing services (preventive and social) and reasonable reimbursement for those services.

• Work to address these issues was outside the scope of the Program, but these are concerns that should be addressed in the future.

Healthcare Policy

1. Support efforts to ensure that all people with SCD (pediatric and adult) have consistent health insurance so they can get uninterrupted care, including access to newly approved treatments.

• Covering all people with SCD with Medicaid should be considered given the state variability of disability approval. And care must be taken to write insurance coverage flexible enough to address emerging clinical findings (e.g., pre-cirrhosis liver injury in chronically transfused children, neuropathic pain, and disabling bone tissue death).

• This recommendation is a supplemental finding related to implementation of the work.

• Addressing gaps in health insurance is imperative to ensure quality, comprehensive, life-long care. While of utmost importance, work on this specific issue fell outside of the scope of this program.

2. Adjust payment policies and enhance reimbursement rates to cover care coordination services that include community healthcare workers to improve access to community resources (e.g., non-emergency services such as transportation, social services, mental healthcare, and clinical services) for all patients, but especially for Medicaid/Medicare recipients.

• This should be done by working with Centers for Medicare and Medicaid

Services to develop feasible payment systems.

• Support and psychosocial services for patients with SCD is needed. While mental health was not specifically addressed in the original FOA, this need gained prominence, particularly in the last year.

• Work is needed to adjust policies and enhance reimbursement rates, but was outside of the scope of this program.

Future Initiatives and Programs

1. Ensure that CBOs are included in the Program efforts and encourage them to serve as hubs.

• Once established, encourage CBOs to add additional spokes in each region that include clinicians and other

CBOs.

• Prioritize sites caring for populations outside the current Program catchment areas throughout this process.

• During the Program, there was some variation in the relationships between CBOs and RCCs; some relationships were strong and some needed additional support.

• Movement to increase integration, especially to move CBOs into a hub role, will be important to address in future program iterations; this effort will be critical to improving work with patients and their families.

• Vast expansion was limited by funding availability.

2. Increase planning and communication between all federal SCD programs, especially the Program and SCD Newborn Screening programs, so that there is alignment of work timing as well as agreement about expectations of this collaborative effort.

• This will help ensure that both programs focus on providers and patients.

• Mutually reinforcing activities across both programs is essential to accelerating critically-needed improvements in SCD care. Improved synergy will support efforts to strengthen the linkages between individuals living with SCD, their families, and communities to services provided by CBOs and community health care workers.

• This structure is necessary for true coordination and to better understand SCD-related care nationally. However, the time, staffing, and infrastructure to do this was outside the scope of this funding period.

Glossary

accessible: Accessible means a person with a disability is afforded the opportunity to acquire the same information, engage in the same interactions, and enjoy the same services as a person without a disability in an equally effective and equally integrated manner, with substantially equivalent ease of use. The person with a disability must be able to obtain the information as fully, equally and independently as a person without a disability in terms of literacy level, language, and culture. Source

Acute Chest Syndrome: A condition affecting the lungs that is defined as a new radiodensity on chest radiograph accompanied by fever and/or respiratory symptoms. Damaged lungs lose their primary functionality and are a leading cause of death for people living with SCD.

Adakveo (crizanlizumab): A monoclonal antibody developed by Novartis that was approved by the FDA on November 15, 2019. Crizanlizumab, which is designed for people 16 years and older, helps reduce the frequency of vaso-occlusive pain episodes. This is important, as these episodes can escalate to life-threatening conditions and are a major cause of additional costs such as hospitalization.

advanced practice professionals (APPs): Medical providers (Physician Assistants and Advanced Practice Registered Nurses, such as Nurse Practitioners) who are trained and educated similarly to physicians. APPs are able to provide many of the same services as physicians (e.g., prescribing medicine)

allogeneic bone marrow transplantation: Cure for SCD in which a patient’s own bone marrow is eliminated with chemotherapy and replaced with bone marrow from a donor

care transition: Process in which young adults with SCD transfer healthcare from pediatric providers to adult providers

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR):

Experimental gene-editing cell therapy used in the treatment of SCD

community-based organizations (CBOs): Non-profit groups that help patients and their caregivers take part in their own care and serve as partners with clinics, providers, patients, and families to engage with all parties in order to improve health outcomes

electronic health record (EHR) systems: Systems of medical records on computers that enable tracking of clinical care elements (e.g., prescription rates)

Endari (l-glutamine): A drug designed for people aged 5+ that has been shown to reduce pain episodes requiring hospitalizations, as well as reduction in acute chest syndrome, compared to a placebo.

erythrocytapheresis: A non-surgical treatment red cell exchange transfusion

hematopoietic stem cell transplantation: The stem cells that form blood and immune cells are known as hematopoietic stem cells (HSCs). Bone marrow transplant, or hematopoietic stem cell transplant (HPSCT), involves the administration of healthy hematopoietic stem cells in patients with dysfunctional or depleted bone marrow. This helps to augment bone marrow function and allows, depending on the disease being treated, destruction of tumor cells with malignancy or generation of functional cells that can replace the dysfunctional ones in cases like immune deficiency syndromes, hemoglobinopathies, and other diseases. Hematopoietic stem cell transplants are now routinely used to treat patients with cancers and other disorders of the blood and immune systems. Source

Hib vaccination series: A series of vaccine doses to protect against Haemophilus influenzae type b (Hib)

hospitalists: Physicians who hold expertise in caring for patients in a hospital setting

hydroxyurea (HU, aka Siklos, Addmedica, Droxia): A medication that was not approved by the U.S. Food and Drug Administration (FDA) for adults living with SCD until 1998, and not for children until 2017. HU is a significant SCD therapy option as it has been shown to be very effective at reducing the frequency of pain crises and need for blood transfusions in pediatric patients aged 2 years and older who have SCD. Source

immunization: A prophylactic therapy that prevents life-threatening infections, with specific focus on pneumococcal vaccination

Institutional Review Board (IRB): Under FDA regulations, an IRB is an appropriately constituted group that has been formally designated to review and monitor biomedical research involving human subjects. In accordance with FDA regulations, an IRB has the authority to approve, require modifications to (to secure approval), or disapprove research. This group review serves an important role in the protection of the rights and welfare of human research subjects. Source

longitudinal SCD registry: This Registry was developed in Phase I and continues through Phase II with the goal of enrolling 2400 patients (300 per center) between the ages of 15 and 45 years to conduct comparative studies related to guidelines and recommendations and to address evidence-based management of SCD. It collects standard clinical measures, laboratory values, lifestyle factors, medical history, treatment, healthcare utilization, and patient-reported outcomes associated with pain, co-morbidities, quality of life, physical functioning, mental health, and barriers to care. Longitudinal data is collected on study subjects throughout the study period. The Registry is a resource for identifying gaps in research, conducting data queries and analyses that lead to development and implementation of research studies, and dissemination of research findings from the Registry data. Source

medical home: Where a practice-based care team takes collective responsibility for a patient’s ongoing care (American Academy of Pediatrics) National Coordinating Center (NCC): In partnership with HRSA, an organization that collaborated with the leads of the five regions to advance the common agenda of increasing access to high-quality comprehensive care that includes use of disease-modifying therapies for people affected with SCD. The NCC developed shared measures and the alignment (and improvement) of activities; enabled communication; and provided the overarching infrastructure, coordination, synthesis and dissemination of outputs, while also reporting progress to HRSA to ensure success. The 2018-2021 NCC was the National Institute for Children’s Health Quality (NICHQ).

network: a nationally coordinated collaboration among and within five regions that shares understanding, commitment, priorities, clinical approaches, measurement, education, and community engagement strategies to improve the health of people living with Sickle Cell Disease (SCD) on a national scale

non-malignant hematology: A non-cancerous blood disorder. Sickle cell disease is a non-malignant (benign) blood disorder. Source Hematologists use the terms classical, nonmalignant, and benign hematology to reference the same entity: the study and management of nonmalignant disorders of the blood. It is a discipline unto itself, distinct from its sister field, malignant hematology. The scope of practice can be broad and includes thrombotic and hemorrhagic disorders, transfusion medicine, hemoglobin disorders including sickle cell disease and thalassemia, anemia, thrombocytopenia, leukocytosis, leukopenia, and disorders of iron metabolism. Source

Oversight Steering Committee (OSC): The OSC comprises experts who bring unique knowledge, skills, and connections that complement the knowledge and skills of the NCC team. The OSC serves to make recommendations and/or provide key information and materials to the NCC team and inform its decision-making. The roster can be found in Appendix B, Section 12.

pharmacokinetics-based guided dosing: Pharmacokinetics is the use of mathematics to determine the right dose for an individual.

pneumococcal disease: A bacterial infection that can affect the upper respiratory tract and can spread to the blood, lungs, middle ear, or nervous system

Project ECHO®: A guided-practice model that reduces health disparities in under-served and remote areas of the state, nation, and world. Through telementoring, the ECHO model uses a hub-and-spoke knowledge-sharing approach where expert teams lead virtual clinics, amplifying the capacity for providers to deliver best-in-practice care to the underserved in their own communities. Source

prophylactic therapy or treatment: A prophylactic is a medication or a treatment designed and used to prevent a disease from occurring.

prophylactic vaccine: A vaccine used to prevent a disease or infection

overt stroke: A type of stroke that results in apparent neurological deficits, such as weakness in an arm or speech problems Source

Oxbryta (voxelotor): A medication that can help reduce strokes by increasing hemoglobin levels. It was granted accelerated approval by the FDA just 10 days after submission, on November 25, 2019, for the treatment of SCD in patients 12 years of age+

quality-adjusted life expectancy (QALE): A model for clinical decisionmaking in which estimates of impairment or disability are factored into calculation of life expectancy. It is also a method of adjusting life expectancy to allow for reduced quality of life caused by chronic conditions. Many chronic conditions shorten life on average by predictable amounts. These expected amounts can be estimated from available sources, such as hospital discharge data and health survey data, and used to produce a QALE for individuals or subsets of the population. At the individual level, the QALE is based on clinical judgment and subjective opinions of patients about their quality of life, preferably arrived at by consensus between clinicians and patients. Source

Regional Coordinating Centers (RCCs): Regional Coordinating Centers (RCC) established regional networks and provided leadership and support for regional and statewide activities that developed and established systemic mechanisms to improve the prevention and treatment of Sickle Cell Disease. sickle cell disease (SCD): one of the most common genetic conditions, caused by a single gene mutation that affects the red blood cells. People who have this mutation can experience a range of symptoms from mild to severe, and those symptoms can change during a lifetime with the disease. The mutation causes red blood cells to form into the shape of a sickle, with edges of the cells transforming from rounded to sharp. When the “sickled” red blood cells move through blood vessels, they can get stuck. The sharp edges pressing against the walls of the blood vessels can cause mild to severe pain episodes. In more severe cases, the sickled cells block the flow of blood through vessels, which results in significant illnesses.

silent stroke: A type of stroke that does not cause any noticeable symptoms and can only be seen on brain scans

telehealth: The use of two-way telecommunications technologies to provide clinical health care through a variety of remote methods

telemedicine: The practice of medicine using technology to deliver care at a distance. A physician in one location uses a telecommunications infrastructure to deliver care to a patient at a distant site. Source

Transcranial Doppler (TCD) screening: Transcranial Doppler (TCD) is a noninvasive ultrasound procedure that allows the clinician to clearly see how quickly blood is flowing through the brain over a period of time. High blood flow is associated with an increased risk of stroke. The test is reliable, painless, and relatively inexpensive.

transition plan: A documented, shared record to support planning for safe transfer from pediatric care to adult medicine

vaso-occlusive pain crises or episodes: Sickle cell anemia patients often experience episodes of acute pain that are caused by vaso-occlusive crisis (VOC). VOC is the most common complication of sickle cell anemia and a frequent reason for emergency department visits and hospitalization. Source