Evidence For Adding The Disorder Severe Combined Immunodeficiency

Evidence For Adding The Disorder Severe Combined Immunodeficiency (SCID) Syndrome Training February 23, 2017 Sheraton Wild Horse Pass John Molina, MD, JD (Pascua Yaqui/San Carlos Apache) Corporate Compliance Officer Native Health, Phoenix AZ Jmolina@nachci. com

What is a screening test? A screening test: a test to detect potential health disorders or diseases in people who do not have any symptoms of disease. Screening test goal: Early detection of a disease To reduce the risk of contracting the disease To detect disease early enough to treat it most effectively John Hopkins Medicine. At: http: //www. hopkinsmedicine. org/healthlibrary/conditions/pathology/screening _tests_for_common_diseases_85, P 00965/

Wilson and Jungner criteria for population-based newborn screening Incidence of disease merits newborn screening Incidence = # of new cases in a given period/population at risk over the same period Disease is not easily identified through physical examination Disease must result in severe clinical manifestations Prognosis improves with early diagnosis and treatment a forecast of the likely outcome of a disease or ailment Available, economic, sensitive, and specific screening test Sensitive: High certainty that person does not have the disease Specific: High certainty that person has the disease Kelly, BT, et. al. Screening for severe combined immunodeficiency in neonates. Clinical Epidemiology. At: https: //www. ncbi. nlm. nih. gov/pmc/articles/PMC 3782515/

State Screening for SCIDS Shortly after a baby is born, a health professional takes a few drops of blood from the baby's heel (Heel Stick Test) The blood sample is sent to a state laboratory to be tested for several severe disorders Each state decides which disorders are included in the screening The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends states test for a core panel of 31 congenital disorders (present at birth) SCIDS was added to the core Recommended Uniform Screening Panel (RUSP)External Web Site Icon in 2010 CDC. Severe Combined Immunodeficiency (SCID). At: https: //www. cdc. gov/newbornscreening/scid. html

Core Panel Core panel defines medical conditions that newborn screening is specifically designed to identify Criteria for a core panel medical condition: There is a specific and sensitive test available to detect the condition The health outcomes of the condition are well understood There is an available and effective treatment Identification of the condition could affect the future reproductive decisions of the family Baby’s First Test. At: http: //www. babysfirsttest. org/newborn-screening/conditions#sthash. Bsji. V 2 JI. dpuf

Prevention “Prevention focuses on forestalling the development of disease before symptoms or life threating events occur, and is the best solution to the current crisis. ” Farshard Marvasti, MD, MPH (NEJM. 367; 10. September 6, 2012) Secondary prevention: is the slowing of the progression of a disease or its sequelae at any point after its inception Treating a disease can also be seen as prevention if it slows the progression of the disease or prevents sequelae

SCIDS Screening in Arizona “Every year, babies across the country are born with Severe Combined Immunodeficiency—SCID. ” “It’s a rare genetic disorder that if not detected and treated early, is deadly. ” “A baby born in Arizona today is automatically screened for a number of diseases – but not for SCID. ” “Arizona is one of three states that does not automatically screen babies for the genetic disease that can lead to repeated infections and even death. ” “Let’s change that, by adding SCID to the list. We have the power to save these precious human lives. So let’s act with urgency. ” Office of the Governor: News Release. At: http: //azgovernor. gov/governor/news/2017/01/governor-ducey-outlines-key-policy-priorities

SCID Screening in Arizona Cara Christ, director of the state Department of Health Services Early intervention is key (detect and treat) Risk of SCID in the general population ranges from one in 60, 000 to one in 100, 000 In Arizona about three babies each year are born with the disease. Our state is home to several Native American tribes suffering from a disproportionately high rate of SCID. Screening will save taxpayers millions of dollars in avoidable treatment costs— which are often billed to the state’s Medicaid program. http: //bvtnews. com/politics/gov-doug-ducey-wants-86 k-arizona-newborns-a-year-tested-for-this-disease. html

Politics – Economics- Healthcare "If people let the government decide what foods they eat and what medicines they take, their bodies will soon be in as a sorry state as the souls who live under tyranny. " Thomas Jefferson

Beneficence: actions taken to help prevent or remove harms or to simply improve the situation of others “Wherever the art of medicine is loved, there is also a love of humanity. ” - Hippocrates “Let us put our minds together to see what we can build for our children” - Chief Sitting Bull (Hunkpapa Lakota, Leader and Healer)

What is our role as leaders? Outreach: Educate our communities and families about SCIDS Sponsor meetings and conferences for health professionals Incorporate Native American culture in teaching about this disease Consider Language and Communication Style Western description of disease/treatments may have no Indigenous interpretation Consider Native American beliefs of health and illness: Alternative views are a clinical reality and may be acted upon irrespective of whether the practitioner recognizes, acknowledges, supports, or denounces them Cultural and language barriers complicate the situation “Sickness" is what is happens to our patient “Disease” is what is happens in science and populations Clinical Methods: The History, Physical, and Laboratory Examinations: Dealing with Patients from Other Cultures. 3 rd edition. At: https: //www. ncbi. nlm. nih. gov/books/NBK 340/

Thank you!