Develop Programs To Speed Diagnosis

Overview

Getting the right diagnosis can take many years, especially for rare diseases. Your patient group can develop programs that speed diagnosis, including outreach programs to healthcare professionals or public awareness campaigns. Diagnostic and screening programs can be developed to diagnose all those who may benefit from a newly approved therapy (including drugs, biologics, and medical devices). Depending on the optimal age for treatment, you may work to have your disease added to newborn screening programs. Because the steps to diagnosing a disease can vary greatly, the strategies you use to make certain all who will benefit from a newly approved therapy will vary as well.

Raising Awareness

When a new therapy is approved that can change the lives of your disease community, it will be important that everyone who can benefit from the therapy is diagnosed. Sometimes therapies will only benefit a subpopulation of your patient community, so it can also be important that doctors understand how to identify the patients who are eligible for the newly approved therapy. 

  • Clinical network: If there is an established clinical network or centers of excellence for your disease, and not all of the centers participated in the clinical trial of the therapy, make certain the medical staff are using the most current diagnostic criteria or tests. 
    • Share current diagnostic criteria or testing strategies with the doctors and other medical professionals in your clinical network.
    • Consider holding a webinar to discuss any recent changes.
    • Rely on your Scientific/Medical Advisory Board, doctors, and medical staff who participated in the clinical trials to help communicate diagnostic steps.
    • Highlight extra tests or diagnostic criteria that may be needed to identify the correct subpopulation of patients who may benefit from the therapy, if applicable.
  • Present at conferences: Reaching out beyond your clinical network is important because many times, especially with rare diseases, a patient or their family will only find your network after a diagnosis or when the diagnosis is strongly suspected. Presenting and exhibiting at appropriate conferences may be one way to reach medical professionals outside your clinical network. 
    • If you hold a conference that includes attendance by the medical professional community, you may wish to hold a session devoted to the newly approved therapy and how to diagnose those that can benefit.
      • Provide copies of published diagnostic criteria or links to the article if available freely online or your website.
      • Direct to the diagnostic criteria posted on your website.
      • Consider holding a separate session for patients and families on the newly approved therapy and also the steps to diagnosis. 
        • Although those in attendance may already be diagnosed, they may also be involved in social media groups where people searching for a diagnosis may learn about your disease.
        • There may be patients and families attending your conference who have not had a diagnosis confirmed or were clinically diagnosed prior to the availability of more advanced or specific diagnostic tests. 
        • If the therapy only benefits a subpopulation of patients, it is important that your patient community knows how the subpopulation is identified.
      • Create an exhibit (table/booth) that focuses on diagnosis of your disease and set it up near the registration table or near the exhibit for the newly approved therapy.
        • Have printed material available.
        • Staff with members of your group/staff who are knowledgeable about the diagnostic criteria and steps.
        • Consider having designated times when one or more of your medical advisors or doctors from your clinical network will be available to answer questions.  
    • Medical professional societies usually hold annual national and regional conferences. You can target the conferences of specialist and primary care providers that are involved in the diagnosis of your patient population.
      • Ask your medical advisors to develop a list of medical professional meetings to explore as opportunities for outreach.
      • Present a session on the diagnostic criteria and testing for your disease while also updating on the newly approved therapy.
        • Some conferences allow groups and patients to present, while others may only allow medical professionals. 
        • You may wish to ask a member of your Scientific/Medical Advisory Board or clinical network if they are willing to make the presentation.
      • Exhibit at the conference:
        • You may wish to coordinate exhibiting with the manufacturer of the newly approved therapy, for example, having the exhibits in close proximity. 
        • Many medical professional societies provide discounts to patient organizations wishing to exhibit at their conference.
        • Provide copies of published diagnostic criteria or links to the article if available freely online or your website.
        • Direct to the diagnostic criteria posted on your website.
        • Staff with members of your group who are knowledgeable about the diagnostic criteria and steps.
        • Consider having special times when one or more of your medical advisors or doctors from your clinical network will be at the exhibit to answer questions. 
      • Remember to check the websites of the conferences early for the processes and deadlines to submit applications to present orally or have an exhibit.
    • Larger patient/disease groups and umbrella groups may have conferences attended by medical professionals who will be on the front lines of diagnosing your disease. You may wish to reach out to these groups to determine which of their conferences would provide an opportunity to present or exhibit. 
      • Check in with the National Organization for Rare Disorders (NORD) and Global Genes, two of the leading, U.S.-based umbrella organizations for the rare disease communities.
      • Reach out to larger groups that include your disease.
  • Update diagnostic information resources: Medical professionals and patients rely on a number of resources to learn about the most current diagnostic tests or criteria for diseases. In the case of rare disease or even more common diseases that are challenging to diagnose, it is vital that these resources provide the most current information. You may wish to reach out to these resources to encourage them to update.
    • Your own website: This is one of the easiest ways for you to make certain the correct information about diagnostic testing and criteria is available. 
      • Work with your medical advisors to present the steps to diagnosis in the most useful way to medical professionals who are unfamiliar with your disease.
      • Highlight testing that may be required if only a subpopulation will benefit from the newly approved therapy.
    • Resources used by medical professionals: Doctors and other medical professionals involved in the diagnosis of rare or difficult to diagnose diseases may rely on medical information resources, so it is important to reach out to the resources that provide diagnostic (and treatment) information about your disease to encourage updates, if needed. Contact pages for resources that may have diagnostic information about specific rare diseases include:
    • Other medical resources: Information about the diagnosis of your disease may also be listed on websites commonly used by patients seeking to learn more about their suspected diagnosis or searching for possible diagnoses. Again you may wish to reach out to these resources to encourage updates on diagnosis (and treatment) if needed. Examples include:
  • Publish. If diagnostic criteria have not been published for your disease or if the criteria or testing has changed since it was last published, consider working with your medical advisors and clinical network to submit a paper to the most relevant journals.
    • Many professional societies also have journals or newsletters that may work well for reaching the appropriate specialists or primary care providers involved in the diagnosis of your disease.

Newborn Screening

If early diagnosis of those that can benefit from the newly approved therapy really means the diagnosis needs to occur soon after birth, you will want to determine whether it is possible for your disease to be added to the newborn screening panel. Your group can take an active advocacy role at both the national and state levels. 

  • Eligible diseases: To be considered to be added to newborn screening, a disease must meet the 3 main qualifications.
    • The disease can be identified within 24 to 48 hours after birth and would not ordinarily be detected clinically during this same time period.
    • A test with appropriate sensitivity and specificity is available for it.
    • There are demonstrated benefits of early detection, timely intervention, and effective treatment of the disease.
  • Key considerations: Both federal and state newborn screening advisory committees evaluate the addition of a new disorder based on certain key considerations.
    • Screening is needed to identify all newborns who may need treatment and there is research/clinical evidence supporting this claim.
    • States have the ability to perform the screening test and can afford the added cost.
    • There is a significant risk of illness, disability, or death if infants are not treated promptly.
    • Effective treatment is available.
    • Treatment is more beneficial in the newborn period than later.
    • Resources and access to treatment and counseling are widely available.
    • The benefits to babies and to society outweigh the risks and burdens of screening and treatment.
  • National level: The U. S. Department of Health and Human Services(HHS) Advisory Committee on Heritable Disorders in Newborn and Children (the Committee), established under the Public Health Service Act, reviews and evaluates the addition of diseases to the recommended list of newborn screening disorders.
    • The Committee advises the Secretary of HHS on universal newborn screening test guidelines, standards and technology.
    • New disorders are added to the national Recommended Uniform Screening Panel (RUSP) after being supported by the Committee and recommended by the Secretary of HHS.
    • The RUSP is not a mandate; decisions of which tests to add to the newborn screening panel are made at the State level. 
    • The Committee encourages individuals and organizations to form multi-disciplinary teams to submit nominations for conditions to be considered for inclusion on the RUSP. Teams should include:
      • Researchers and/or clinicians with expertise on the condition being nominated.
      • Advocacy and/or professional organizations with knowledge of issues relevant to newborn screening.
      • Interested consumers/individuals.
    • Nominate a Condition is the Committee webpage with information about nominating diseases for consideration of addition to the RUSP. 
  • State level: States rely on technical, clinical, and community advisory groups to evaluate the addition of new newborn screening tests for particular disorders. 
    • The process for adding new diseases or disorders to a state’s newborn screening panel differs among states. Some states:
      • Consult advisory panels to assist in making recommendations.
      • Require legislation to enact a change.
      • Regulate authority to revise the newborn screening panel to the state health department.
    • Most states have state advisory committees that review recommendations by stakeholder groups and compare them with the national RUSP.  These states may:
      • Follow the RUSP in adding new disorders to state panels.
      • Consider the RUSP, as one factor in decision-making.
      • Take a more active and state-centered role in decision-making.
    • Screening lab capabilities and capacity also vary among states. 
      • Most states have an in-state laboratory.
      • Some send their tests to a regional laboratory or contract with a commercial laboratory.  Regional labs:
        • May be more affordable for less-populated states.
        • May have limited capabilities, which could make adding new diseases to a state’s screening panel more difficult.
    • States may choose to add diseases to their newborn screening panel that have not yet been added to the RUSP.
    • Deliberations on adding new disorders are often public, with opportunity for input from health care providers, medical experts, parents, advocates, legislators and public health programs.
    • Disease prevalence may also be a considered factor as the state weighs the cost of the test against the likelihood of identifying a child with the disease. 
  • Supporting resources: The addition of a disease to the national RUSP and state newborn screening panels requires research evidence that the screening test and treatment meet the appropriate qualifications and standards as well as a strong team of advocates.
    • Umbrella groups and patient groups that have recently accomplished having their disease added to the RUSP and states’ newborn screening panel, even if this has not been accomplished in every state, are a prime resource for learning how best to organize your advocacy efforts. 
    • The Centers for Disease Control and Prevention (CDC) plays several active roles in newborn screening, some of which may be helpful as you advocate for inclusion on state panels.
    • Newborn Screening Translational Research Network (NBSTRN) focuses on supporting newborn screening research.
      • Goals include:
        • Facilitating ground-breaking research in newborn screening designed to discover new tests, conditions and treatments
        • Fostering a collaborative and integrative network of researchers, clinicians, families and public health partners to understand newborn screening outcomes.
        • Supporting pilots that inform the infrastructure, programming, and policies needed to expand and improve newborn screening
      • NBSTRN states it can help:
        • Build new connections and strengthen partnerships across government, academia, clinical care, public health and industry.
        • Support data collection and data storage of phenotypic and genomic sequencing information for newborn screening research.
        • Connect you with the resources and partnerships to support your initiatives in newborn screening research.
        • Provide guidance for your research in ethical, legal, and social issues important in newborn screening research studies and pilot studies.
        • Contribute to our growing Longitudinal Pediatric Data Resource (LPDR).
        • Support the analytical and clinical validation of new technologies and track emerging findings from pilots in the NBS Research Repository.
        • Enable new knowledge discovery through secondary use of accumulated data.
      • Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN (2014) addresses questions related to parental permission for newborn screening pilot studies as new conditions are considered for inclusion on newborn screening programs.
    • Baby’s First Test Public Square provides an open space dedicated to conversations about newborn screening. 

Developing Reduced Cost Programs

Depending on how your disease is diagnosed, you may be able to work to offer free or reduced diagnostic testing either through your clinical network if one is established or with the help of a larger umbrella group that includes your disease. 

  • Work with your Scientific/Medical Advisory Board and clinical network to brainstorm possible ways to speed diagnosis.
  • Collaborate with the Sponsor and/or manufacturer of the newly approved therapy to develop diagnostic programs.
  • Consider factors that may affect your ability to develop a program. For example:
    • It may be easiest to develop a program for diseases diagnosed or confirmed by specific tests, such as:
      • Genetic testing
      • Bloodwork
      • Biopsies
    • It may be more difficult for diseases that are still diagnosed clinically, through exclusion of other possible causes, or require multiple tests.

Tips for Success

  • Although each therapy and disease community is different, you may benefit greatly from reaching out to other groups who have recently had a new therapy approved for their disease to learn about their efforts, including what has and has not worked.
  • For many diseases, the presenting symptoms, number and severity of symptoms, progression, and age of onset can vary greatly. 
    • When updating information about diagnostic testing steps or criteria on your website, consider providing examples of different presentations that may delay a diagnosis.
  • If genetic testing is part of the diagnostic testing process for your disease community, consider reaching out to explore collaborative opportunities with the National Coordinating Center for the Regional Genetics Networks (NCC)
    • The mission of the NCC is to improve access to quality genetic services for medically underserved populations.
    • NCC Contact Us webpage
  • Whole genome, whole exome, and panel screening may be involved in identifying patients with your disease if the associated symptoms and severity are highly variable or common to more than one disease. 
    • If this is the case, consider including information on your website about the different genetic testing that may currently be used to diagnose your disease.
    • Genomics Revolution: Reliability and Access (2016) is a video presentation from a Global Genes Summit focused on the potential impact of whole genome sequencing (WGS) on the diagnosis of rare diseases.
      • It also provides a patient/clinician friendly background on the basics of genetics. 
      • The video is about 45 minutes. The speakers are engaging and present the information in a way that can be easily understood by medical professionals and members of your disease community. 
  • Patient Centered Outcomes Research Institute (PCORI) is a nonprofit organization authorized and funded through the Affordable Health Care Act. PCORI offers funding for comparative effectiveness research that is patient centered, including supporting research focused on improving diagnostic options. PCORI does not fund the development of therapies or the development of new diagnostic tests. 
    • Funded research includes:
      • Comparison of diagnostic options.
      • Comparison of alternative methods to increase access to diagnostic testing, such as telemedicine, traveling doctors, or online options.
      • Research addressing disparities in diagnosis.
    • PCORI Informational Presentation is a video that provides an overview of PCORI and the type of funded research. 
      • The video is not specific to funding of research for diagnosis nor rare diseases but is directed toward rare disease patient groups. 
      • The video was taped in 2015 at a Global Genes Summit and is about 1 hour long. 
      • Although directed toward rare disease patient groups, the use of acronyms and technical language may require your undivided attention to properly absorb all of the details.

Resources

Newborn Screening
Advisory Committee on Heritable Disorders in Newborn and Children U.S. Health Resources & Services Administration (HRSA) (link)
Recommended Uniform Screening Panel (RUSP) U.S. Health Resources & Services Administration (HRSA) (link)
CDC Newborn Screening Portal Centers for Disease Control and Prevention (CDC) (link)
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN Newborn Screening Translational Research Network (NBSTRN) (link)
Tips for Success
National Coordinating Center for the Regional Genetics Networks About Us National Coordinating Center for the Regional Genetics Networks (link)
Patient-Centered Outcomes Research Institute (PCORI) About Us Patient-Centered Outcomes Research Institute (PCORI) (link)

Getting the right diagnosis can take many years, especially for rare diseases. Your patient group can develop programs that speed diagnosis, including outreach programs to healthcare professionals or public awareness campaigns. Diagnostic and screening programs can be developed to diagnose all those who may benefit from a newly approved therapy (including drugs, biologics, and medical devices). Depending on the optimal age for treatment, you may work to have your disease added to newborn screening programs. Because the steps to diagnosing a disease can vary greatly, the strategies you use to make certain all who will benefit from a newly approved therapy will vary as well.

When a new therapy is approved that can change the lives of your disease community, it will be important that everyone who can benefit from the therapy is diagnosed. Sometimes therapies will only benefit a subpopulation of your patient community, so it can also be important that doctors understand how to identify the patients who are eligible for the newly approved therapy. 

  • Clinical network: If there is an established clinical network or centers of excellence for your disease, and not all of the centers participated in the clinical trial of the therapy, make certain the medical staff are using the most current diagnostic criteria or tests. 
    • Share current diagnostic criteria or testing strategies with the doctors and other medical professionals in your clinical network.
    • Consider holding a webinar to discuss any recent changes.
    • Rely on your Scientific/Medical Advisory Board, doctors, and medical staff who participated in the clinical trials to help communicate diagnostic steps.
    • Highlight extra tests or diagnostic criteria that may be needed to identify the correct subpopulation of patients who may benefit from the therapy, if applicable.
  • Present at conferences: Reaching out beyond your clinical network is important because many times, especially with rare diseases, a patient or their family will only find your network after a diagnosis or when the diagnosis is strongly suspected. Presenting and exhibiting at appropriate conferences may be one way to reach medical professionals outside your clinical network. 
    • If you hold a conference that includes attendance by the medical professional community, you may wish to hold a session devoted to the newly approved therapy and how to diagnose those that can benefit.
      • Provide copies of published diagnostic criteria or links to the article if available freely online or your website.
      • Direct to the diagnostic criteria posted on your website.
      • Consider holding a separate session for patients and families on the newly approved therapy and also the steps to diagnosis. 
        • Although those in attendance may already be diagnosed, they may also be involved in social media groups where people searching for a diagnosis may learn about your disease.
        • There may be patients and families attending your conference who have not had a diagnosis confirmed or were clinically diagnosed prior to the availability of more advanced or specific diagnostic tests. 
        • If the therapy only benefits a subpopulation of patients, it is important that your patient community knows how the subpopulation is identified.
      • Create an exhibit (table/booth) that focuses on diagnosis of your disease and set it up near the registration table or near the exhibit for the newly approved therapy.
        • Have printed material available.
        • Staff with members of your group/staff who are knowledgeable about the diagnostic criteria and steps.
        • Consider having designated times when one or more of your medical advisors or doctors from your clinical network will be available to answer questions.  
    • Medical professional societies usually hold annual national and regional conferences. You can target the conferences of specialist and primary care providers that are involved in the diagnosis of your patient population.
      • Ask your medical advisors to develop a list of medical professional meetings to explore as opportunities for outreach.
      • Present a session on the diagnostic criteria and testing for your disease while also updating on the newly approved therapy.
        • Some conferences allow groups and patients to present, while others may only allow medical professionals. 
        • You may wish to ask a member of your Scientific/Medical Advisory Board or clinical network if they are willing to make the presentation.
      • Exhibit at the conference:
        • You may wish to coordinate exhibiting with the manufacturer of the newly approved therapy, for example, having the exhibits in close proximity. 
        • Many medical professional societies provide discounts to patient organizations wishing to exhibit at their conference.
        • Provide copies of published diagnostic criteria or links to the article if available freely online or your website.
        • Direct to the diagnostic criteria posted on your website.
        • Staff with members of your group who are knowledgeable about the diagnostic criteria and steps.
        • Consider having special times when one or more of your medical advisors or doctors from your clinical network will be at the exhibit to answer questions. 
      • Remember to check the websites of the conferences early for the processes and deadlines to submit applications to present orally or have an exhibit.
    • Larger patient/disease groups and umbrella groups may have conferences attended by medical professionals who will be on the front lines of diagnosing your disease. You may wish to reach out to these groups to determine which of their conferences would provide an opportunity to present or exhibit. 
      • Check in with the National Organization for Rare Disorders (NORD) and Global Genes, two of the leading, U.S.-based umbrella organizations for the rare disease communities.
      • Reach out to larger groups that include your disease.
  • Update diagnostic information resources: Medical professionals and patients rely on a number of resources to learn about the most current diagnostic tests or criteria for diseases. In the case of rare disease or even more common diseases that are challenging to diagnose, it is vital that these resources provide the most current information. You may wish to reach out to these resources to encourage them to update.
    • Your own website: This is one of the easiest ways for you to make certain the correct information about diagnostic testing and criteria is available. 
      • Work with your medical advisors to present the steps to diagnosis in the most useful way to medical professionals who are unfamiliar with your disease.
      • Highlight testing that may be required if only a subpopulation will benefit from the newly approved therapy.
    • Resources used by medical professionals: Doctors and other medical professionals involved in the diagnosis of rare or difficult to diagnose diseases may rely on medical information resources, so it is important to reach out to the resources that provide diagnostic (and treatment) information about your disease to encourage updates, if needed. Contact pages for resources that may have diagnostic information about specific rare diseases include:
    • Other medical resources: Information about the diagnosis of your disease may also be listed on websites commonly used by patients seeking to learn more about their suspected diagnosis or searching for possible diagnoses. Again you may wish to reach out to these resources to encourage updates on diagnosis (and treatment) if needed. Examples include:
  • Publish. If diagnostic criteria have not been published for your disease or if the criteria or testing has changed since it was last published, consider working with your medical advisors and clinical network to submit a paper to the most relevant journals.
    • Many professional societies also have journals or newsletters that may work well for reaching the appropriate specialists or primary care providers involved in the diagnosis of your disease.

If early diagnosis of those that can benefit from the newly approved therapy really means the diagnosis needs to occur soon after birth, you will want to determine whether it is possible for your disease to be added to the newborn screening panel. Your group can take an active advocacy role at both the national and state levels. 

  • Eligible diseases: To be considered to be added to newborn screening, a disease must meet the 3 main qualifications.
    • The disease can be identified within 24 to 48 hours after birth and would not ordinarily be detected clinically during this same time period.
    • A test with appropriate sensitivity and specificity is available for it.
    • There are demonstrated benefits of early detection, timely intervention, and effective treatment of the disease.
  • Key considerations: Both federal and state newborn screening advisory committees evaluate the addition of a new disorder based on certain key considerations.
    • Screening is needed to identify all newborns who may need treatment and there is research/clinical evidence supporting this claim.
    • States have the ability to perform the screening test and can afford the added cost.
    • There is a significant risk of illness, disability, or death if infants are not treated promptly.
    • Effective treatment is available.
    • Treatment is more beneficial in the newborn period than later.
    • Resources and access to treatment and counseling are widely available.
    • The benefits to babies and to society outweigh the risks and burdens of screening and treatment.
  • National level: The U. S. Department of Health and Human Services(HHS) Advisory Committee on Heritable Disorders in Newborn and Children (the Committee), established under the Public Health Service Act, reviews and evaluates the addition of diseases to the recommended list of newborn screening disorders.
    • The Committee advises the Secretary of HHS on universal newborn screening test guidelines, standards and technology.
    • New disorders are added to the national Recommended Uniform Screening Panel (RUSP) after being supported by the Committee and recommended by the Secretary of HHS.
    • The RUSP is not a mandate; decisions of which tests to add to the newborn screening panel are made at the State level. 
    • The Committee encourages individuals and organizations to form multi-disciplinary teams to submit nominations for conditions to be considered for inclusion on the RUSP. Teams should include:
      • Researchers and/or clinicians with expertise on the condition being nominated.
      • Advocacy and/or professional organizations with knowledge of issues relevant to newborn screening.
      • Interested consumers/individuals.
    • Nominate a Condition is the Committee webpage with information about nominating diseases for consideration of addition to the RUSP. 
  • State level: States rely on technical, clinical, and community advisory groups to evaluate the addition of new newborn screening tests for particular disorders. 
    • The process for adding new diseases or disorders to a state’s newborn screening panel differs among states. Some states:
      • Consult advisory panels to assist in making recommendations.
      • Require legislation to enact a change.
      • Regulate authority to revise the newborn screening panel to the state health department.
    • Most states have state advisory committees that review recommendations by stakeholder groups and compare them with the national RUSP.  These states may:
      • Follow the RUSP in adding new disorders to state panels.
      • Consider the RUSP, as one factor in decision-making.
      • Take a more active and state-centered role in decision-making.
    • Screening lab capabilities and capacity also vary among states. 
      • Most states have an in-state laboratory.
      • Some send their tests to a regional laboratory or contract with a commercial laboratory.  Regional labs:
        • May be more affordable for less-populated states.
        • May have limited capabilities, which could make adding new diseases to a state’s screening panel more difficult.
    • States may choose to add diseases to their newborn screening panel that have not yet been added to the RUSP.
    • Deliberations on adding new disorders are often public, with opportunity for input from health care providers, medical experts, parents, advocates, legislators and public health programs.
    • Disease prevalence may also be a considered factor as the state weighs the cost of the test against the likelihood of identifying a child with the disease. 
  • Supporting resources: The addition of a disease to the national RUSP and state newborn screening panels requires research evidence that the screening test and treatment meet the appropriate qualifications and standards as well as a strong team of advocates.
    • Umbrella groups and patient groups that have recently accomplished having their disease added to the RUSP and states’ newborn screening panel, even if this has not been accomplished in every state, are a prime resource for learning how best to organize your advocacy efforts. 
    • The Centers for Disease Control and Prevention (CDC) plays several active roles in newborn screening, some of which may be helpful as you advocate for inclusion on state panels.
    • Newborn Screening Translational Research Network (NBSTRN) focuses on supporting newborn screening research.
      • Goals include:
        • Facilitating ground-breaking research in newborn screening designed to discover new tests, conditions and treatments
        • Fostering a collaborative and integrative network of researchers, clinicians, families and public health partners to understand newborn screening outcomes.
        • Supporting pilots that inform the infrastructure, programming, and policies needed to expand and improve newborn screening
      • NBSTRN states it can help:
        • Build new connections and strengthen partnerships across government, academia, clinical care, public health and industry.
        • Support data collection and data storage of phenotypic and genomic sequencing information for newborn screening research.
        • Connect you with the resources and partnerships to support your initiatives in newborn screening research.
        • Provide guidance for your research in ethical, legal, and social issues important in newborn screening research studies and pilot studies.
        • Contribute to our growing Longitudinal Pediatric Data Resource (LPDR).
        • Support the analytical and clinical validation of new technologies and track emerging findings from pilots in the NBS Research Repository.
        • Enable new knowledge discovery through secondary use of accumulated data.
      • Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN (2014) addresses questions related to parental permission for newborn screening pilot studies as new conditions are considered for inclusion on newborn screening programs.
    • Baby’s First Test Public Square provides an open space dedicated to conversations about newborn screening. 

Depending on how your disease is diagnosed, you may be able to work to offer free or reduced diagnostic testing either through your clinical network if one is established or with the help of a larger umbrella group that includes your disease. 

  • Work with your Scientific/Medical Advisory Board and clinical network to brainstorm possible ways to speed diagnosis.
  • Collaborate with the Sponsor and/or manufacturer of the newly approved therapy to develop diagnostic programs.
  • Consider factors that may affect your ability to develop a program. For example:
    • It may be easiest to develop a program for diseases diagnosed or confirmed by specific tests, such as:
      • Genetic testing
      • Bloodwork
      • Biopsies
    • It may be more difficult for diseases that are still diagnosed clinically, through exclusion of other possible causes, or require multiple tests.
  • Although each therapy and disease community is different, you may benefit greatly from reaching out to other groups who have recently had a new therapy approved for their disease to learn about their efforts, including what has and has not worked.
  • For many diseases, the presenting symptoms, number and severity of symptoms, progression, and age of onset can vary greatly. 
    • When updating information about diagnostic testing steps or criteria on your website, consider providing examples of different presentations that may delay a diagnosis.
  • If genetic testing is part of the diagnostic testing process for your disease community, consider reaching out to explore collaborative opportunities with the National Coordinating Center for the Regional Genetics Networks (NCC)
    • The mission of the NCC is to improve access to quality genetic services for medically underserved populations.
    • NCC Contact Us webpage
  • Whole genome, whole exome, and panel screening may be involved in identifying patients with your disease if the associated symptoms and severity are highly variable or common to more than one disease. 
    • If this is the case, consider including information on your website about the different genetic testing that may currently be used to diagnose your disease.
    • Genomics Revolution: Reliability and Access (2016) is a video presentation from a Global Genes Summit focused on the potential impact of whole genome sequencing (WGS) on the diagnosis of rare diseases.
      • It also provides a patient/clinician friendly background on the basics of genetics. 
      • The video is about 45 minutes. The speakers are engaging and present the information in a way that can be easily understood by medical professionals and members of your disease community. 
  • Patient Centered Outcomes Research Institute (PCORI) is a nonprofit organization authorized and funded through the Affordable Health Care Act. PCORI offers funding for comparative effectiveness research that is patient centered, including supporting research focused on improving diagnostic options. PCORI does not fund the development of therapies or the development of new diagnostic tests. 
    • Funded research includes:
      • Comparison of diagnostic options.
      • Comparison of alternative methods to increase access to diagnostic testing, such as telemedicine, traveling doctors, or online options.
      • Research addressing disparities in diagnosis.
    • PCORI Informational Presentation is a video that provides an overview of PCORI and the type of funded research. 
      • The video is not specific to funding of research for diagnosis nor rare diseases but is directed toward rare disease patient groups. 
      • The video was taped in 2015 at a Global Genes Summit and is about 1 hour long. 
      • Although directed toward rare disease patient groups, the use of acronyms and technical language may require your undivided attention to properly absorb all of the details.

Resources

Newborn Screening
Advisory Committee on Heritable Disorders in Newborn and Children U.S. Health Resources & Services Administration (HRSA) (link)
Recommended Uniform Screening Panel (RUSP) U.S. Health Resources & Services Administration (HRSA) (link)
CDC Newborn Screening Portal Centers for Disease Control and Prevention (CDC) (link)
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN Newborn Screening Translational Research Network (NBSTRN) (link)
Tips for Success
National Coordinating Center for the Regional Genetics Networks About Us National Coordinating Center for the Regional Genetics Networks (link)
Patient-Centered Outcomes Research Institute (PCORI) About Us Patient-Centered Outcomes Research Institute (PCORI) (link)