Newborn Screening: Improving Outcomes
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Newborn Screening: Improving Outcomes


>>>GOOD AFTERNOON. IT’S 1:00, SO LET’S BEGIN, AND
WELCOME TO THE CDC PUBLIC HEALTH GRAND ROUNDS. I WOULD LIKE TO BRING TO YOUR
ATTENTION OUR NEW WEB PAGE. WHERE BOTH INTERNAL, EXTERNAL
AND ANYBODY WHO WANTS TO FOLLOW US CAN GO AND WATCH US LIVE OR
WATCH ALL THE ARCHIVED SESSIONS. I DO WANT TO POINT OUT THAT WE
HAVE BEEN ABLE TO GET A LOT OF INTEREST FROM A BROAD ARRAY OF
PEOPLE FROM THOSE VERY YOUNG TO THOSE VERY OLD WHO HAVE FOLLOWED
WITH UNBELIEVABLE INTEREST WHAT HAS BEEN GOING ON FOR THE PAST
TWO YEARS, AND HERE IS THE GRANTS TO PROVE IT. WE HAVE HAD SESSIONS THAT HAVE
HAD MORE THAN 15,000 PEOPLE VIEWING US LIVE, BUT MUCH TO
PROBABLY EVERYBODY’S SURPRISE, THE SESSION THAT TOPS EVERYTHING
WAS DONE BY OUR GEEK SQUAD LAST MONTH. IT WAS ON THE ELECTRONIC HEALTH
RECORDS, 28,000 PEOPLE WATCHED US LIVE, AND THIS IS OUR
ABSOLUTE RECORD SO FAR. I WOULD LIKE TO USE THIS
OPPORTUNITY TO WELCOME A GROUP OF COLLEAGUES FROM EMORY HERE
TODAY WHO ARE WORKING ON NEWBORN SCREENING, AND I HAD THE
PLEASURE OF MEETING A FEW OF THEM, AMONG THEM THE NEWBORN
SCREENING NURSE COORDINATOR AND A FEW OF HER COLLEAGUES AND IT’S
REALLY WONDERFUL TO SEE THIS EVENT IS ATTRACTING COLLEAGUES
FROM FAR AND FROM CLOSE. SO WELCOME EMORY COLLEAGUES. I ALSO WOULD LIKE TO POINT OUT
THAT CDC IS GETTING MORE AND MORE MODERNIZED THAN WE REALIZE
IN THE WAYS OF COMMUNICATION WITH PEOPLE HAVE CHANGED AND
THEN THE YOUNGER GENERATION AND A LOT OF PEOPLE ARE YOUNGER FOR
ME NOW THESE DAYS AND I KNOW THAT’S NOT EXACTLY THE FABULOUS
FEELING, BUT A LOT OF THE YOUNGER GENERATIONS ARE USING
DIFFERENT MODES OF COMMUNICATION, SO WE, AS YOU
KNOW, ARE ON YOUTUBE, WHERE YOU CAN WATCH US, BUT I’M SO
DELIGHTED TO LET YOU KNOW THAT WE ARE TWEETING TODAY, AND I HAD
TO BE EDUCATED BECAUSE BELIEVE IT OR NOT I’M NOT ON TWITTER BUT
I AM TODAY AND MY KIDS WILL BE DELIGHTED. THESE ARE THE NOTES I HAD TO
WRITE DOWN BECAUSE I CAN’T SAY IT. IT SAYS I NEED TO REMIND PEOPLE
THAT THOSE WHO WOULD LIKE TO PARTICIPATE IN THE TWEETING
PROCESS TODAY CAN FIND US AT THE HASH TAG CDC GRAND ROUNDS. FOR THIS SESSION WE’LL SEE HOW
IT GOES. I’D LIKE FOR EVERYBODY TO STAY
TUNED FOR OUR NEXT SESSION, NEXT MONTH IN SEPTEMBER, TRAUMATIC
BRAIN INJURY. ABOUT THE TOPIC TODAY THIS IS A
TOPIC THAT HAS CAUSED POSSIBLY THE BIGGEST LEVEL OF OPTIMISM BY
ME AND THOSE OF US WHO HAVE BEEN WORKING WITH OUR COLLEAGUES,
BECAUSE IT SEEMS LIKE SO MUCH HAS BEEN DONE, A LOT OF
PROGRESS, BUT IT REALLY PROVIDES A WONDERFUL OPPORTUNITY FOR OUR
CHILDREN AND THEIR FUTURE, AND WE HAVE AN OUTSTANDING CAST OF
CHARACTERS TODAY, DR. RODNEY HOWELL, SHARON TERRY, DR. CARLA
CUTHBERT, DR. SCOTT GROSSE AND DR. FAN TAIT, AND YOU WILL
ABSOLUTELY ENJOY THEIR PRESENTATION TODAY. WE DID ALSO AS ALWAYS LINK OUR
PRESENTATION TO THE CDC ACTION CLIPS, AND I THANK SOME OF OUR
SPEAKERS WHO HAVE HELPED SELECT THOSE TOPICS. NOW FOR THIS SESSION WE HAD A
LITTLE BIT OF A CHALLENGE, AND I WOULD LIKE TO ESPECIALLY THANK
ALL OF THE SPEAKERS WHO HAVE BEEN MORE FLEXIBLE THAN USUAL
AND THOSE OF YOU WHO HAVE WORKED WITH ME ON GRAND ROUNDS KNOW
THAT THE FLEXIBILITY HERE ON YOUR PART AND RIGIDITY ON ME IS
THE WAY TO GO, AND SO THEY HAVE BEEN EVEN MORE FLEXIBLE BECAUSE
YOURS TRULY WAS ON A VACATION AND MOST PEOPLE KNOW WHERE
VENICE IS, ABOUT 100 MILES AWAY FROM MY SUMMER HOME IN CROATIA. I HAD A WORKING DESK IN MY HOUSE
THERE BUT IT WAS REALLY HARD TO FOCUS AND CONCENTRATE WHERE THIS
IS WHERE I WAS STAYING, AND JUST TO GIVE YOU A SENSE OF ENVY,
THIS IS MY SUMMER HOUSE, THIS IS THE VIEW FROM MY SUMMER HOUSE,
THIS IS ME ON THE BEACH. THINGS TO FURTHER DISTRACT ME,
SOME BEAUTIFUL VENUES AND SIGHT-SEEING AND SPECTACULAR
FOOD, LIKE PIZZA WITH PRUSCIUTTO, SO I HAD TO
DESIGNATE SOMEBODY TO BE THE SLAVE DRIVER AND COMMUNICATE
WITH ME AND SINCE THIS IS A SCREENING SESSION, RICHARD ALMIE
WAS THE ONE WHO COORDINATED THE SCREENING TRAINING AND AS YOU
KNOW WE ALWAYS BUILD THE TEAMWORK SO HE’S THE ONE WHO
ALWAYS WORKED WITH OUR COLLEAGUES AND HELPED US GET IN
GEAR AND AS YOU SEE, THEY HAVE HAD SOME PRACTICE IN SCREENING. YOU WILL SEE THAT EACH ONE OF
THEM HAS SPENT A CERTAIN AMOUNT OF TIME SCREENING. AND WITH THAT, I WOULD LIKE TO
SET ASIDE A COUPLE OF MINUTES FOR COMMENTS FROM OUR DIRECTOR,
WHO IS NOT HERE WITH US, BUT HAS TAPED HIS COMMENTS.>>EVERY YEAR, MORE THAN 4
BILLION NEWBORNS IN THE U.S. ARE SCREENED FOR HEARING LOSS AND
SELECTED GENETIC AND ENDOCRINE DISORDERS. SCREENING OF MOST NEWBORN BLOOD
SAMPLES IS DONE WITH STATE, PUBLIC HEALTH LABS. HEARING SCREENING, ON THE OTHER
HAND, IS TYPICALLY DONE BY INDIVIDUAL HOSPITALS AND
MONITORED BY PUBLIC HEALTH AGENCIES. BEFORE EARLY IDENTIFICATION
TREATMENT, DISORDERS NOW IDENTIFIED BY NEWBORN BLOOD
SCREENING WERE FREQUENTLY ASSOCIATED WITH LIFELONG
DISABILITIES OR EVEN DEATH IN CHILDHOOD. IN THE PAST DECADE, THE NUMBER
OF DISORDERS IDENTIFIED BY NEWBORN BLOOD SCREENING HAS
INCREASED AND SCREENING HAS BECOME MORE STANDARDIZED. NOW, MORE THAN 95% OF NEWBORNS
ARE SCREENED FOR HEARING LOSS AND 5,000 WERE DIAGNOSED LAST
YEAR. MORE THAN 6,000 WERE CONFIRMED
WITH OTHER DISORDERS ON THE STANDARD PANEL. THIS LEADS TO LIVES SAVED,
PREVENTION OF DISABILITY AND REDUCTION OF HEALTH CARE COSTS
AND LONG-TERM DISABILITIES, BUT THERE ARE STILL BIG CHALLENGES. HOW DO WE BALANCE LIMITED
RESOURCES WITH A PUSH FOR ADDITIONAL SCREENING? HOW DO WE REDUCE COST THROUGH
AUTOMATION AND OTHER TECHNIQUES? HOW DO WE ENSURE THAT WE NOT
ONLY SCREEN BUT ALSO FOLLOW UP? HOW DO WE BEST EDUCATE THE
PUBLIC AND HEALTH CARE PROVIDERS AND STATE OFFICIALS ABOUT WHAT’S
WORKING AND WHAT NEEDS TO BE IMPROVED? HOW DO WE CONTINUE TO DEVELOP
EVIDENCE- EVIDENCE-BASED SCREENING AND
TREATMENT STRATEGIES AND RIGOROUSLY EVALUATE PROGRAM
OUTCOMES? THIS SESSION WILL ADDRESS THESE
AND OTHER CHALLENGES AND DISCUSS WAYS FORWARD THROUGH BETTER
PARTNERSHIPS TO ENSURE HEALTHIER CHILDREN THROUGH NEWBORN
SCREENING.>>THANK YOU VERY MUCH, TANJA. I THINK NEXT YEAR WE SHOULD HAVE
THIS MEETING IN CROATIA, SO WE’LL EXPECT YOU TO HOST THAT. IT’S MY PLEASURE TO JOIN YOU
TODAY TO BRIEFLY DISCUSS THE CURRENT SITUATION WITH NEWBORN
SCREENING, STARTING FROM THE VERY BEGINNING. I LIKE TO THINK OF THE SCIENCE
OF NEWBORN SCREENING THAT BEGAN EARLY IN THE 1900s WITH THE KEEN
INTEREST IN THE BIOCHEMISTRY OF THE BODY, THE TERM INBORN
METABOLISM WAS INTRODUCED BY GARROD AND BASED ON THOSE DATA,
NEWBORN SCREENING HAS DEVELOPED. NEWBORN SCREENING INITIALLY HAS
FOCUSED ON CONDITIONS THAT ADVERSELY AFFECT THE CENTRAL
NERVOUS SYSTEM AND AS WE’VE EXPANDED, AS I WILL DISCUSS
LATER WE NOW SCREEN FOR CONDITIONS IN THE IMMUNE CARDIAC
SYSTEM AND AGAIN, THE SPREAD OF THESE CONDITIONS HAS BEEN
AVAILABLE WITH TECHNOLOGY, BETTER UNDERSTANDING AND NEW
DIAGNOSTIC TECHNOLOGIES. NEWBORN SCREENING BEGAN IN THE
1960s AND IS NOW CARRIED OUT IN ALL THE UNITED STATES. IMPORTANT NEWBORN SCREENING IS
IN ALL SITUATIONS A PUBLIC HEALTH PROGRAM UNDER THE EGIS OF
THE STATE HEALTH DEPARTMENTS. THE INITIAL TEST WAS FOR PKU,
SIMPLE RELIABLE TEST AND THE EXPANSION WAS ON A STATE BY
STATE BASIS AND THE CHALLENGE THAT DEVELOPED WAS EXTRAORDINARY
VARIATION FROM STATE TO STATE AND VERY LITTLE SYSTEMATIC
EVALUATION OR RATIONALE FOR THE OUTCOMES OF SCREENING. LET ME REMIND YOU AT THE OUTSET
THAT WE SCREENED CURRENTLY SLIGHTLY OVER 4 MILLION INFANTS
A YEAR AND CURRENTLY WELL OVER 30 CONDITIONS EACH, MAKING
NEWBORN SCREENING BY FAR THE MOST COMMONLY PERFORMED GENETIC
TESTING CURRENTLY IN THE UNITED STATES. THE ABNORMALITIES THAT EXISTED
FROM STATE TO STATE BECAME OF GREAT PUBLIC INTEREST AND SHARON
TERRY IS GOING TO GIVE YOU SOME SPECIFIC EXAMPLES OF THAT, AS WE
MOVE ALONG. IN 2001, MATERNAL AND CHILD
HEALTH AWARDED A CONTRACT TO THE AMERICAN COLLEGE OF MEDICAL
GENETICS TO DEVELOP A SYSTEM WITH SCIENTIFIC AND MEDICAL
INFORMATION TO HELP IDENTIFY AND MAKE RECOMMENDATIONS BASED ON
THE EVIDENCE FOR NEWBORN SCREENING. THIS IS A LARGE GROUP OF OVER 70
FOLKS AND THEY REVIEWED INDEPENDENT NEWBORN SCREENING
RESULTS AND THEN THERE WAS EXCELLENT REVIEW GROUP THAT
LOOKED AT THEIR DATA. THEY PUBLISHED A PAMPHLET
ENTITLED NEWBORN SCREENING PANEL IN 2006 AND THAT IS COMMONLY
CALLED THE UNIFORM PANEL TODAY. THE SELECTION CRITERION OF THE
NEWBORN SCREENING PANEL, THE CRITERIA WHERE MUCH IS EXPECTED
FROM HISTORY, THEY WERE IN THREE GROUPS, THE INCIDENCE AND SO
FORTH, THE CONDITION, THE TEST CHARACTERISTICS, AND THE
TREATMENT, AND ITS LONG-TERM FOLLOW-UP. ON THAT CORE PANEL RECOMMENDED
BY THE AMERICAN COLLEGE OF MEDICAL GENETICS THERE WERE 29
CONDITIONS IDENTIFIED. ALL RESULTED IN SERIOUS MEDICAL
COMPLICATIONS, SUCH AS DEVELOPMENTAL DELAY, AND/OR
DEATH, IF NOT RECOGNIZED, AND ALL CHILDREN WITH THESE
CONDITIONS BENEFIT FROM EARLY DIAGNOSIS AND TREATMENT. ON THIS UNIFORM PANEL OF 29
CONDITIONS, 20 ARE IDENTIFIED BY SOPHISTICATED TECHNOLOGY, AMINO
ACIDS, FATTY ACID AND ORGANIC ACID ABNORMALITIES, THREE
HEMOGLOBINOPATHIES AND SIX OTHER CONDITIONS AND YOU’LL HEAR MORE
ABOUT THOSE CONDITIONS LATER. IN ADDITION WHILE YOU’RE IN THE
PROCESS OF IDENTIFYING THOSE CORE CONDITIONS YOU SEE OTHER
COMPOUNDS THAT ARE PRESENT, AND SOMETIMES THOSE ARE PRESENT IN
ABNORMAL AMOUNTS. THOSE HAVE BEEN CALLED THE
SECONDARY TARGETS. YOU NEED TO IDENTIFY THOSE AND
QUANTITATE THEM IN ORDER TO RELIABLY DIAGNOSIS A CORE PANEL
BUT IN VIEW OF THE FACT THESE ARE ABNORMAL, IT WAS RECOMMENDED
BY THIS GROUP AND CONTINUES TO BE RECOMMENDED THAT THEY BE
REPORTED. LET ME JUST COMMENT BRIEFLY
ABOUT THE BURDEN OF THE CORE PANEL. ALL THE CONDITIONS ARE RARE. HOWEVER, YOU’VE HEARD DR. FRIEDEN COMMENTED ABOUT THE
HEARING LOSS, WHICH IS 5,000 CASES PER YEAR, AND THOSE GO
DOWN TO MCAD DIVISIONS OF 239 AND ABOUT TEN A DAY WHICH WE
DIAGNOSE ABOUT 65 CASES A YEAR IN THE UNITED STATES, BUT THERE
ARE 12,500 INFANTS THAT ARE DIAGNOSED WITH THESE CONDITIONS
EACH YEAR WITH A NEWBORN SCREENING PANEL. LET ME POINT ABOUT THE BURDEN OF
ALL UNTREATED PERSONS WITH THESE CONDITIONS, SOME SUFFER ENORMOUS
BURDENS. PKU, IF YOU HAVE NO TREATMENT
AND DIAGNOSED EARLY YOU HAVE PROFOUND INTELLECTUAL DISABILITY
WITH AVERAGE IQs THAT ARE UNDER 20, IDENTIFIED AND TREATED
PERSONS WITH PKU END UP WITH A NORMAL IQ, AND AGAIN PEOPLE WITH
MCAD DEFICIENCY, THEY ARE AT RISK SUBSTANTIALLY OF HAVING
SUDDEN INFANT DEATH. IN 2000 — IN THE CHILDREN’S
HEALTH ACT OF 2000, THE PUBLIC HEALTH SERVICE ACT REQUIRED THAT
THERE BE ESTABLISHED AN ADVISORY COMMITTEE ON DISORDERS IN
NEWBORNS IN CHILDREN AND THAT GROUP WAS FORMULATED AND
METAPHOR THE FIRST TIME IN 2004, THAT FOUR-YEAR PERIOD IS RATHER
SPEEDY AT TIMES FOR THE GOVERNMENT, AND WE WOULD LIKE TO
THINK THAT PERHAPS THEY WERE JUST CAREFUL IN SELECTING
PEOPLE. BROAD CHARGE FOR THIS COMMITTEE,
BUT TO DATE THE EFFORTS HAVE REALLY FOCUSED ON NEWBORN
SCREENING. THE COMMITTEE ORIGINALLY FOCUSED
ON THE ACMG REPORT AND UNANIMOUSLY ACCEPTED THIS REPORT
AND MADE THIS RECOMMENDATION TO THE SECRETARY OF HHS, AND IN
TIME THE SECRETARY OF HHS HAS ACCEPTED THIS COMMITTEE
RECOMMENDATION, AND DESIGNATED THE UNIFORM SCREENING PANEL AS A
NATIONAL STANDARD, WHICH WE THINK IS VERY IMPORTANT FOR
NEWBORN SCREENING. NEWBORN SCREENING AS FAR AS
CONSISTENCY FROM STATE TO STATE HAS CHANGED DRAMATICALLY FROM
THE TIME THAT ACMG REPORT WAS PUBLISHED TO THE WORK OF THEmq
THE COMMITTEE HAS REVIEWED, HAS RECEIVED NINE NOMINATIONS SINCE
2007. SIX WERE SENT BACK FOR
ADDITIONAL INFORMATION OR ADDITIONAL REVIEW. FOUR HAVE BEEN SENT BACK TO THE
NOMINATORS FOR ADDITIONAL INFORMATION, SO THEY COULD BE
RENOMINATED. TWO CONDITIONS HAVE BEEN
RECOMMENDED BY THE COMMITTEE FOR ADDITION TO THE PANEL. THE FIRST ONE RECOMMENDED WAS
SEVERE COMBINED IMMUNE DEFICIENCY SKID, THAT WOULD MAKE
THE OVERALL PANEL NOW HAVE 30 RECOMMENDED CONDITIONS IN THE
CORE PANEL AND RECENTLY THE COMMITTEE RECOMMENDED TO THE
SECRETARY CRITICAL CYANOTIY CONGENITAL HEART DISEASE AND
THAT’S UNDER REVIEW. THERE ARE EFFORTS NOW BY THE
ACMG TO FUND FELLOWSHIPS IN AN AREA, AND PUBLIC HEALTH
LABORATORIES ARE STRETCHED FINANCIALLY AT A TIME WHEN
IMPORTANT NEW DISCOVERIES ARE BEING BROUGHT TO BOARD, BUT NEW
TECHNOLOGIES AND SO FORTH, AUTOMATION AND SO FORTH
HOPEFULLY WILL PERMIT THE STATE LABS TO MOVE FORWARD. THERE’S A TREMENDOUS LACK OF
PUBLIC EDUCATION AND UNDERSTANDING, THE GENETIC
ALLIANCE HAS AN IMPORTANT NEW PROJECT THAT SHOULD PROVIDE A
GREAT OPPORTUNITY FOR PUBLIC EDUCATION. THE RETENTION AND USE OF
RESIDUAL DRIED BLOOD SPOTS HAS BEEN AN EXTREMELY INTERESTING
AND CONTENTIOUS ISSUE BUT AGAIN THE COMMITTEE HAS WORKED
AGGRESSIVELY FOR A LONG TIME TO COME UP WITH SPECIFIC
RECOMMENDATIONS ABOUT HOW INDEED THESE RESIDUAL SPOTS SHOULD BE
STORED AND UTILIZED. I WOULD LIKE TO NOW INTRODUCE
OUR NEXT SPEAKER, MISS SHARON TERRY, PRESIDENT AND CEO OF THE
UNITED ALLIANCE.>>THANK YOU VERY MUCH, I’M
SHARON TERRY FROM GENETIC ALLIANCE, ALSO THE MOTHER OF TWO
CHILDREN WITH A GENETIC DISORDER. I WANT TO TALK TO YOU ABOUT
WHAT’S AT STAKE IN NEWBORN SCREENING FROM THE PARENT
PERSPECTIVE. VIRGINIA MOTHER JENA MONACO GAVE
BIRTH TO HER MOTHER, STEVEN IN 1997 AT A VIRGINIA HOSPITAL. STEVEN HAD A RELATIVELY
WONDERFUL FIRST THREE YEARS OF LIFE, IN 2001 WENT INTO
METABOLIC CRISIS RESULTING IN CRISIS, DIAGNOSED WITH IVA,
TREATED BY SEVERE DIET AND MEDICATION AND IF BEGUN SOON THE
CHILD IS RELATIVELY OKAY AND AS DR. HOWELL SAID THERE IS
DISPAIRITY BETWEEN STATES. IF HE HAD BEEN BORN A SHORT
DISTANCE AWAY THAT WOULD NOT HAVE HAPPENED FOR HIM. JENA MONACO HAS BEEN THE HERO IN
THE STORY. SHE GAVE BIRTH IN 2003 TO
DAUGHTER CAROLYN. CAROLYN WAS SCREENED BEFORE
BIRTH AND CAROLYN IS A NORMAL, HAPPY CHILD. JENNA BECAME AN ADVOCATE AS MANY
PEOPLE DO WHO ARE IN THE SITUATIONS. IN 2006 VIRGINIA ADDED THIS AND
OTHER DISEASES TO THE PANEL. WOMEN ARE ABLE TO DO PHENOMENAL
THINGS. THE DIAGNOSTIC ODYSSEY FOR
PARENTS IS DIFFICULT. AT BIRTH PARENTS LOOKING TO SEE
ARE THERE TEN TOES AND TEN FINGERS AND WHAT HAPPENS TO THE
PARENTS OF THE CHILDREN WHO GO INTO CRISIS IS A FEELING THERE’S
SOMETHING REALLY WRONG. I HAD A GUT FEELING SOMETHING
WASN’T RIGHT. THERE’S LOTS OF COMMUNICATION
WITH THE PROVIDERS SAYING THIS BABY IS SICK, IT DOESN’T SMILE,
THERE’S ANXIETY, THERE’S FEAR, MANY TRIPS TO THE HOSPITAL. THE DIAGNOSIS IS AFTERNOON MADE
TOO LATE. THE PAINFUL PART IS THIS COULD
BE PREVENTED. THESE FAMILIES REALLY HELP SHAPE
THE SYSTEM, AND AS IN THE CASE OF JENNA BECOME NEWBORN
SCREENING ADVOCATES OFTEN THE NIGHT THEIR CHILD DIES OR WHEN
THEY GO INTO CRISIS AND HISTORICALLY THE INTRODUCTION OF
NEWBORN SCREENING AT THE STATE LEVEL DEPENDENT ON THE ADVOCACY
OF THESE PARENTS AND THEY WERE VERY INCREMENTAL IN THE PASSAGE
OF THE NEWBORN SCREENING SAVES LIVES ACT AND THE CHILDREN’S
HEALTH ACT. OTHER KEY COMMUNITY PARTNERS ARE
NATIONAL ADVISORY GROUPS AND ADVOCACY GROUPS LIKE GENETIC
ALLIANCE AND FEDERALLY AND STATE FUNDED PROGRAMS, FOR EXAMPLE THE
TITLE V PROGRAMS AND THE EARLY HEARING DETECTION AND
INTERVENTION PROGRAMS. GENETIC ALLIANCE, THE
ORGANIZATION I’M WITH, REPRESENTS THE CONSUMER
PERSPECTIVE ON THE ADVISORY COUNCIL FOR NEWBORNS AND
CHILDREN AND WE GIVE A VOICE FOR FAMILY PERSPECTIVE, AND WE ALSO
WORK TO GIVE TECHNICAL ASSISTANCE TO GROUPS FILLING OUT
THE NOMINATION FORMS THAT DR. HOWELL SHOWED YOU. IN 2009, GENETIC ALLIANCE AND
OUR PARTNERS WERE AWARDED A COOPERATIVE AGREEMENT TO CREATE
THE NEWBORN SCREENING CLEARING HOUSE, CALLED BABY’S FIRST TEST
AND SOMEWHERE IN SEPTEMBER, WE’RE NOT GOING TO BE AS DELAYED
AS THE GOVERNMENT BUT WE WILL BE PAST SEPTEMBER 1st, LAUNCHING
BABY’S FIRST TEST AND YOU CAN VISIT BABYSFIRSTTEST.ORG. LONG-TERM FOLLOW-UP ACTIVITIES
PROGRAMS LACK COORDINATION AND HAVE BEEN A LOW PRIORITY FOR
FUNDING. THE CHALLENGES THAT PATIENTS AND
FAMILIES INCLUDE CONNECTING SPECIALISTS WITH CURE PROVIDERS
IN THE FACE OF DISEASE AND TRANSITIONING FROM PEDIATRIC TO
ADULT CARE SERVICES IS DIFFICULT. WE HAVE A CONSUMER TASK FORCE ON
CONSUMER SCREENING AND CREATED A STATEMENT ON LONG-TERM FOLLOW-UP
AND LOOKING AT UNDERSTANDING CONSUMERS CAN BE INVOLVED IN
THIS AND PROVIDE COMMENTS AND GIVE KEY MESSAGES SUCH AS THE
BALANCE THAT’S NEEDED BETWEEN PARENTS RESPONSIBILITY TO THE
ADVOCATES AND HOW THEY COPE WITH THE DISEASE AND INCREASE FEDERAL
INVESTMENT IN LONG-TERM CARE FOLLOW-UP AS NEEDED. SO IN SUMMARY, NEWBORN SCREENING
PREVENTS THESE DIAGNOSTIC ODYSSEYS THAT ARE QUITE
EXPENSIVE FOR THE MEDICAL SYSTEM AND VERY, VERY PAINFUL FOR
FAMILIES. THE VARIABILITY IN STATE
SCREENING PANELS HAS A SIGNIFICANT IMPACT IN FAMILIES
AND IT NEEDS TO CHANGE MORE QUICKLY. FAMILY ADVOCATE STATES THE
AWARENESS AND EVEN FUNDING. CONSUMERS SHOULD BE ENGAGED IN
POLICY AND PROGRAM DEVELOPMENT AND CERTAINLY NOT ENOUGH TO
SIMPLY SCREEN TO KEEP THE PROMISE OF NEWBORN SCREENING WE
HAVE TO FOLLOW UP. OUR NEXT SPEAKER IS CARLA
CUTHBERT.>>GOOD AFTERNOON. I’M CARLA CUTHBERT. I WILL BE FOCUSING ON THE
LABORATORY ASPECTS OF NEWBORN SCREENING. ONE OF THE VITAL COMPONENTS OF
THE NEWBORN SCREENING SYSTEM IS THE LABORATORY. WHILE THE LAB’S MOST NOTABLE
RESPONSIBILITY IS TO ENSURE HIGH QUALITY POPULATION SCREENING OF
MANDATED TESTS IT IS ALWAYS ACTIVELY ENGAGED IN THE
COMMUNICATION OF RESULTS AND INFORMATION WITH OTHER PARTS OF
THE NEWBORN SCREENING SYSTEM. IT PLAYS A VERY IMPORTANT ROLE
IN THE TRANSLATIONAL RESEARCH NECESSARY IN THE DESIGN OF NEW
SCREENING TESTS, AND IT IS VERY COMMITTED TO CONTINUOUS QUALITY
IMPROVEMENT. WHILE MOST NEWBORN SCREENING
TESTING IN THE UNITED STATES IS DONE IN STATE PUBLIC HEALTH
LABORATORIES, OTHER TESTING MODELS DO EXIST. FOR EXAMPLE, SOME STATES MAY
CHOOSE TO COLLABORATE WITH OTHER STATES IN A REGIONALIZATION
MODEL, SO OREGON STATE LABORATORY PERFORMS NEWBORN
TESTING FOR ITSELF AND FIVE OTHER STATE LABORATORIES, IN
ADDITION TO BIRTHING FACILITIES AS NOTED ON THE SLIDE. STATES MAY ALSO USE CONTRACT
LABORATORIES, SO CALIFORNIA CONTRACTS NEWBORN SCREENING
TESTING TO SEVEN CONTRACT LABORATORIES WITHIN THE STATE,
PERKIN ELMER GENETICS, THREE STATES AND THE DISTRICT OF
COLUMBIA AND THE MINNESOTA STATE LABORATORY CONTRACTS WITH THE
MAYO CLINIC TO PERFORM SELECTED TESTS. EVEN THOUGH THE TESTING
COMPONENT IS PERFORMED BY A REGIONAL OR A CONTRACT
LABORATORY, OTHER FUNCTIONS OF THE NEWBORN SCREENING PROGRAM
REMAIN THE RESPONSIBILITY OF THE STATE PROGRAM. REGARDLESS OF THE TESTING MODEL,
ALL STATE LABORATORIES ARE UNDER THE REGULATORY OVERSIGHT OF THE
CLINICAL LABORATORY IMPROVEMENT AMENDMENT OR CLIA. EACH LABORATORY IS RESPONSIBLE
FOR SELECTING AND SUCCESSFULLY PERFORMING TESTING METHODS FOR
EACH OF THE MANDATED CONDITION. HERE IS A LIST OF LABORATORY
TECHNOLOGIES THAT ARE USED TO DETECT SOME OF THESE DISORDERS
AND EVEN WITHOUT GOING INTO THE TECHNICAL DETAILS ABOUT THESE
TESTS YOU CAN APPRECIATE THE COMPLEXITY OF LABORATORY
TESTING. THE CHALLENGE HERE IS THAT THESE
LABORATORIES MUST MAINTAIN THE HIGHEST LEVEL OF QUALITY IN
THEIR TESTING, SO THAT THEY CAN IDENTIFY ALL AFFECTED NEWBORNS
WHILE MINIMIZING FALSE POSITIVE TESTS. AND THIS IS WHERE CDC PLAYS A
CRITICAL ROLE. CDC ASSURES QUALITY OF NEWBORN
SCREENING THROUGH THE NEWBORN SCREENING QUALITY ASSURANCE
PROGRAM BY WORKING ALONGSIDE STATE LABORATORIES BY WORKING TO
IMPROVE SCREENING TESTS. ALL NEWBORN SCREENING
LABORATORIES IN THE UNITED STATES AND OVER 450
INTERNATIONAL LABORATORIES IN 6 COUNTRIES VOLUNTARILY
PARTICIPATE IN THIS PROGRAM. ALL TESTING I’M REFERRING TO IS
DONE IN DRY BLOOD SPOTS SO THIS DOES NOT INCLUDE HEARING
SCREENING. OF NOTE THIS CDC PROGRAM IS THE
ONLY PROGRAM OF ITS KIND THAT ADDRESSES QUALITY ISSUES OF
DRIED BLOOD SPOT MEASUREMENTS FOR ALL OF THE CONDITIONS FOR
WHICH NEWBORN SCREENING IS AVAILABLE IN THE UNITED STATES. PROFICIENCY TESTING IS A VERY
IMPORTANT WAY TO ENSURE THAT MEASUREMENTS MADE IN THE NEWBORN
SCREENING LABORATORIES ARE ACCURATE. CDC PROVIDES SAMPLES THAT MIMIC
THE DIFFERENT NEWBORN SCREENING CONDITIONS. CARRY OUT THE TESTS AND COMPARE
THE RESULTS TO DETERMINE PERFORMANCE. ANY LABORATORY WITH A FALSE
NEGATIVE RESULT IS ACTIVELY FOLLOWED UP BY A CDC SCIENTIST. THE PROGRAM PROVIDES REFERENCE
MATERIALS AND OFFERS TRAINING AND TECHNICAL CONSULTATION TO
THE NEWBORN SCREENING LABORATORIES AS NEEDED. THE NEWBORN SCREENING QUALITY
ASSURANCE PROGRAM HAS BEEN IN OPERATION FOR OVER 30 YEARS AND
STRIVES TO IMPROVE ITS SUPPORT TO PARTICIPANT LABORATORIES. IN 2010 AN EXCESS OF 700 DRIED
BLOOD SPOTS WERE DISTRIBUTED AND 17 REPORTS SUMMONING LABORATORY
PERFORMANCE FOR DIFFERENT NEWBORN SCREENING CONDITIONS
WERE GENERATED, IN COLLABORATION WITH THE ASSOCIATION OF PUBLIC
HEALTH LABORATORIES, THE PROGRAM HAS ALSO BEEN ABLE TO COORDINATE
OVER SEVERAL YEARS CONFERENCES, NATIONAL MEETINGS, TECHNICAL
WORKSHOPS, WEBINARS, SPECIAL TRAINING ALL TO KEEP THE
LABORATORY SCIENTISTS UP TO DATE ON CURRENT TRENDS AND TECHNICAL
CONDITIONS IN NEWBORN SCREENING. YOU HEARD FROM DR. HOWELL ABOUT
THE SEVERE COMBINED IMMUNE DEFICIENCY
DEFICIENCY, OR SKID. CDC SUPPORTED NEWBORN SCREENING
FOR SKID FOR SEVERAL YEARS AND WORKED WITH THE STATES IN
PROMOTING NATIONWIDE NEWBORN SCREENING IMPLEMENTATION, BY
PROVIDING FUNDING FOR PILOT PROGRAMS FOR SKID AND PROVIDING
PILOT STUDYING IN THE NAVAJO SECTION. WE’VE PREPARED REFERENCE
MATERIALS AND ESTABLISHED A PROFICIENCY TESTING PROGRAM FOR
SKID AND WE CONTINUE TO PROVIDE TRAINING AND TECHNICAL SUPPORT
FOR STATE PROGRAMS AS THEY ENGAGE IN IMPLEMENTATION. THE IMPACT OF WHY WE DO WHAT WE
DO IS SO VERY EVIDENT TO US. TO DATE OVER 1 MILLION BABIES
HAVE BEEN SCREENED FOR SKID IN FOUR STATES. 19 BABIES HAVE BEEN DIAGNOSED
WITH THIS CONDITION. 45 BABIES HAVE BEEN IDENTIFIED
WITH SEVERE IMMUNOCOMPROMISED CONDITIONS THAT REQUIRE
IMMEDIATE FOLLOW-UP AFTER BIRTH. AS A RESULT OF THE SCREENING
SKID INCIDENTS SEEM TO BE HIGHER THAN PREVIOUSLY REPORTED. NOW I’D LIKE TO INTRODUCE YOU TO
BEAUTIFUL LITTLE DAWSON. DAWSON APPEARED HEALTHY AT BIRTH
AND DESECTED AT NEWBORN SCREENING HAVING SKID. HE WAS ABLE TO RECEIVE A BONE
MARROW TRANSPLANTt NOW IS A THRIVING BUBBLY
3-YEAR-OLD BOY. SO WHAT TECHNICAL CHALLENGES AND
CONSIDERATIONS LIE AHEAD FOR THE NEWBORN SCREENING LABORATORY? I’VE LISTED A FEW THAT ARE
ACTIVELY BEING ADDRESSED. THERE ARE ISSUES RELATED TO THE
DETECTION OF NEW CONDITIONS, AUTOMATION, THE REDUCTION OF
FALSE POSITIVES, EXPANSION TO INCLUDE OTHER DISORDERS THROUGH
NEW TECHNOLOGIES. THE INCORPORATION OF NEW
TECHNOLOGY INTO THE NEWBORN SCREENING LABORATORY WORK FLOW
IS ALWAYS A CHALLENGE. WHEN YEARS AGO THAT WAS
TECHTROMETRY, TODAY IT’S NEWBORN TESTY. TODAY THEY ADDRESS THE
CHALLENGES PIONEERING RESEARCH PROJECT TO DEVELOP INNOVATIVE
APPROACHES FOR NEWBORN SCREENING PLATFORMS, THEY WORK TOGETHER TO
SHARE BEST PRACTICES AND ENGAGE IN VERY SPIRITED DISCUSSIONS TO
ADDRESS QUALITY IMPROCHL INITIATIVE
INITIATIVES. OTHER CHALLENGES, OF COURSE,
INCLUDE FUNDING AND BUDGETARY CONSTRAINTS AND THEY NEED, AND
THE NEED TO KEEP KEY STAKE HOLDERS BETTER INFORMED. IN TIMES WHEN ALL STATE PROGRAMS
ARE BEING ASKED TO DO MORE WITH LESS, THESE CHALLENGES PROVIDE
THE LABORATORIES WITH OPPORTUNITIES FOR INNOVATION,
INNOVATION TO BECOME MORE EFFICIENT WITHOUT SACRIFICING
ACCURACY, AS THEY ADVANCE CURRENT CAPABILITIES OF NEWBORN
SCREENING METHODS AND PROMOTE EFFECTIVENESS OF THIS PROGRAM TO
THE PUBLIC. OUR NEXT PRESENTER IS SCOTT
GROSSE.>>GOOD AFTERNOON. I’M GOING TO TALK ABOUT THE
HEALTH IMPACT AND ECONOMIC BENEFITS OF NEWBORN SCREENING
AND CHALLENGES TO FOLLOW UP. NEWBORN SCREENING PREVENTS
DISABILITY AND SAVES LIVES, VARYING WITH THE CONDITION. IT IS CHALLENGING TO ESTIMATE
EXACTLY HOW MANY POOR HEALTH OUTCOMES THAT OCCUR IN
UNSCREENED CHILDREN CAN BE PREVENTED BY EARLIER DIAGNOSIS. FIRST, THE OUTCOMES OF
UNSCREENED CHILDREN ARE NOT NECESSARILY REPRESENTATIVE,
CLINICAL DATA MAY OVERREPRESENT SEVERELY AFFECTED CHILDREN. SECOND, THE OUTCOMES AND SCREEN
COHORTS MAY REFLECT THE CONTRIBUTIONS OF IMPROVEMENTS TO
CARE THAT OCCUR OVER TIME. FOR EXAMPLE, IN THE PAST, YOUNG
CHILDREN WITH SICKLE CELL DISEASE OFTEN DIED OF
INFECTIONS, MANY OF WHICH ARE NOW PREVENTED THROUGH VACCINES
FOR PNEUMOCOCCAL DISEASE. WE KNOW THAT SCREENING FOR
CONDITIONS THAT CAUSE DISABILITY CAN SAVE MONEY, SCREENING FOR
CERTAIN OTHER CONDITIONS SUCH AS SICKLE CELL DISEASE CAN SAVE
LIVES BUT DO NOT NECESSARILY SAVE MONEY. OVERALL, THOUGH, WE BELIEVE THAT
NEWBORN SCREENING SAVES MORE MONEY THAN IT COSTS. I’M GOING TO FOCUS ON TWO
CONDITIONS, THE TWO MOST COMMON, CONGENITAL HYPERTHYROIDISM AND
CONGENITAL HEARING LOSS. APPROXIMATELY 2,000 INFANTS ARE
BORN WITH CONGENITAL HYPOTIE ‘ROIDISM, THE TREATMENT IS
INEXPENSIVE AND IQ IS NORMALIZED. IN THE ABSENCE OF SCREENING,
SOME CHILDREN, 160 CHILDREN EACH YEAR WOULD HAVE HAD INTELLECTUAL
DISABILITY, IQ LESS THAN 70 POINTS, AND OVERALL THE
DISTRIBUTION OF IQ SCORES HAS SHIFTED TO THE LEFT BY 20 TO 25
POINTS. CHILDREN WITH SUBCLINICAL
CONGENAL HYPOTHYROIDISM HAVE A SLIGHT SHIFT ABOUT 7 TO 8
POINTS. IN 2003, GOVERNMENT
ACCOUNTABILITY OFFICE ASSESSED THE COST OF THE ENTIRE SPOT
SCREENING PROGRAM IN THE U.S. AT ABOUT $120 MILLION. NEWBORN SCREENING IS A BARGAIN
IN THE U.S. HEALTH CARE SYSTEM. THE COST OF TESTING FOR
CONGENITAL HYPOTHYROIDISM ALONE THE LABORATORY COST IS $500 PER
INFANT FOR $20 MILLION FOR THE U.S. EACH YEAR. THE HEALTH IMPACT FOR CASES
PREVENTED EACH YEAR, 470 OTHER CHILDREN WITH CLINICAL
HYPOTHYROIDISM WHO HAVE A GAIN OF IQ, A TOTAL OF ABOUT 10,600
POINTS, 540 OTHER CHILDREN WITH MILDER HYPOTHYROIDISM, GAINING A
TOTAL OF 4,300 IQ POINTS, 160 CASES OF SERIOUS INTELLECTUAL
DISABILITY PREVENTED, MORE THAN 1,000 OTHER CHILDREN WHO THERE’S
PREVENTED LESSER DEGREE OF COGNITIVE IMPARMTSZ, TOTAL OF
14,900 IQ POINTS. THINK OF THE BENEFIT TO SOCIETY
OF ALL THAT IQ. SO THE ECONOMIC BENEFITS, EACH
CHILD BORN WITH AN INTELLECTUAL DISABILITY HAS A LIFETIME COST
OF APPROXIMATELY $1.3 MILLION, WHICH MEANS AVOIDED COST EACH
YEAR OF $195348 DIRECT AND INDIRECT COST. THOSE CHILDREN WHO DO NOT HAVE
DISABILITY BUT HAVE GAINED IQ POINTS WE VALUE IQ AT
APPROXIMATELY $13,000 PER IQ POINT IN TERMS OF LIFETIME
INCREASED EARNING POTENTIAL, FOR A TOTAL OF $196 MILLION PER
YEAR, SO IN SUM, THAT’S A GAIN OF ALMOST $600 MILLION IN
ECONOMIC BENEFITS, WHICH IS APPROXIMATELY 20 TIMES THE COST
OF LABORATORY TESTING FOR CONGENITAL HYPERTHYROIDISM, BUT
WE NEED FOLLOW-UP TO ENSURE THE BENEFIT. NO STATES CURRENTLY DO
SYSTEMATIC FOLLOW-UP FOR HYPOTHYROIDISM. WE TRACKED CHILDREN WHO WERE
TRACKED WITH CONGENITAL HYPOTHYROIDISM AND ONE OR MORE
FILLED PRESCRIPTION FOR MEDICATION AND TRACKED THEM OVER
TIME TO SEE HOW MANY CONTINUED TO BE TREATED, AND AFTER 36 TO
39 MONTHS, ONLY APPROXIMATELY 60% CONTINUED TO RECEIVE THE
PRESCRIPTIONS. THERE WAS A GAP, APPROXIMATELY
60%. SO CONGENITAL HEARING LOSS WHICH
IS THE MOST COMMON DISORDER THAT CAN BE TESTED IN THE NEWBORN
PERIOD, AS WE’VE ALREADY HEARD, OVER 5,000 INFANTS EACH YEAR ARE
DOCUMENTED TO HAVE A DIAGNOSIS OF HEARING LOSS FOLLOWING
NEWBORN SCREENING. WE KNOW THAT HEARING LOSS CAN
HAVE NEGATIVE EFFECTS ON LANGUAGE DEVELOPMENT,
COMMUNICATION, SCHOOL ACHIEVEMENT, EMPLOYMENT AND
EARNINGS. A UK STUDY OF SCHOOL AGED
CHILDREN WHO HAD BILATERAL HEARING LOSS AND HAD BEEN BORN
IN EITHER HOSPITALS OR HEALTH DOCTORS WHICH HAD NEWBORN
HEARING SCREENING DEMONSTRATED BETTER LANGUAGE SCORES,
COMMUNICATION SCORES, GRADING SCORES AND LOWER EDUCATION
COSTS, EDUCATION COSTS WERE LOWER 22% OVERALL, ACCORDING TO
36% OF THE ADDED COST ATTRIBUTED TO HEARING LOSS AS A RESULT OF
HAVING NEWBORN HEARING SCREENING. SO THE OVERALL EARLY HEARING
DETECTION AND EHDE, ALL INFANTS ARE SCREENED BEFORE ONE MONTH,
THOSE WHO HAVE, DO NOT PASS THE HEARING SCREEN ARE REFERRED, ARE
TESTED, HAVE A DIAGNOSTIC EVALUATION BEFORE THREE MONTHS. THOUGH WHO HAVE ABNORMAL HEARING
ALL RECEIVE EARLY INTERVENTION SERVICES BEFORE SIX MONTHS. THOSE ARE THE GOALS. EDHE SYSTEM INCLUDES SCREENING
BY HEALTH CARE PROVIDERS, THE HOSPITALS, THE STATE, ANY
PROGRAM, MEDICAL HELP, PARENTS HAVE THE CHOICE AS TO WHICH
COMMUNICATION OPTION OR INTERVENTION TO FOLLOW, SO WHAT
IS THE BALANCE? WE KNOW THAT THE COST OF NEWBORN
HEARING SCREENING AVERAGES ABOUT $40 PER INFANT. STATE AND FEDERAL GOVERNMENTS
SPEND ABOUT $10 PER INFANT, TO SUPPORT THE INFRASTRUCTURE, FOR
A TOTAL COST TO SOCIETY OF ABOUT $200 MILLION PER YEAR. THE ECONOMIC BENEFITS ON
AVERAGE, A CHILD WITH HEARING LOSS HAS HIGHER EDUCATIONAL
COSTS OF $115,600. 36% REDUCTION WITH SCREENING
IMPLIES $44,200 SAVINGS IN COST AS A RESULT OF HEARING
SCREENING, MULTIPLIED BY 5,000 CHILDREN IS APPROXIMATELY $200
MILLIONER IF YEAR, THUS, EDHE BREAKS EVEN JUST IN TERMS OF THE
DIRECT COST. IF YOU INCLUDE THE INDIRECT COST
IN LIFETIME EARNINGS WHICH COULD BE TWICE AS LARGE, THE BENEFIT
IS SUBSTANTIALLY GREATER. CDC HAS A HEARING SCREENING
SURVEY WHICH EDHE PROGRAMS REPORT THE NUMBER OF INFANTS
SCREENED AND DOCUMENTED OUTCOMES. IN 2009, 50 STATES AND
TERRITORIES REPORTED THAT OVER 97% OF ALL INFANTS WERE
SCREENED. HOWEVER, OF THOSE THAT DID NOT
PASS THE SCREEN, 45% HAD NO DOCUMENTATION OF FURTHER
ASSESSMENT, BECAUSE MANY OF THESE CHILDREN MAY HAVE HAD A
DIAGNOSTIC ASSESSMENT THAT WAS NOT REPORTED, WE NEED BETTER
COMMUNICATION, BETTER LINKAGES BETWEEN CLINICAL CARE AND
FOLLOW-UP PROGRAMS TO DOCUMENT THAT THE APPROPRIATE FOLLOW-UP
HAS BEEN DONE. THERE ARE SIGNS OF PROGRESS. INDIANA HAS SHOWN HOW IMPROVED
DATA SYSTEMS AND QUALITY IMPROVEMENT CAN LEAD TO A
DRAMATIC REDUCTION IN THE NUMBER OF CHILDREN WHO ARE NOT
DOCUMENTED TO HAVE FOLLOW-UP. IN INDIANA, IT WENT FROM 35% IN
2005 TO 7% IN 2009. NEWBORN SCREENING IS PUBLIC
HEALTH SUCCESS. IT SAVES LIVES, PREVENTS
DISABILITY AND SAVES MONEY. NONETHELESS, WE DO NEED BETTER
DATA SYSTEMS AND FOLLOW-UP TO ENSURE THAT ALL CHILDREN HAVE
SUCCESS. AND LAST, BUT NOT LEAST, FAN
TAIT.>>GOOD AFTERNOON. AS A PEDIATRICIAN, YOU HAVE TO
KNOW HOW MUCH I LOVE THESE PICTURES. I’M FAN TAIT FROM THE AMERICAN
ACADEMY OF PEDIATRICS AND IT’S MY PRIVILEGE TO SPEND A FEW
MINUTES TALKING WITH YOU ABOUT CLOSING GAPS AND IMPROVING
OUTCOMES THROUGH LONG-TERM FOLLOW-UP, AND PARTNERSHIP. SO WHEN WE THINK IN TERMS OF THE
GOAL TO ENSURE THE BEST POSSIBLE OUTCOMES FOR INDIVIDUALS, WE
REALLY HAVE TO LOOK AT THE LONG-TERM FOLLOW-UP PIECE OF
THIS, AND THERE ARE MANY STRATEGIES THAT WE REALLY NEED
TO USE WHEN WE’RE THINKING IN TERMS OF LONG-TERM FOLLOW-UP,
SOME OF THEM INCLUDE CARE COORDINATION, MONITORING OF THE
DISEASES, DATA COLLECTION, AND REALLY THE ESTABLISHMENT OF
EVIDENCE-BASED PRACTICES, NOT SO EASY TO DO IN ALL OF THE CASES
THAT WE’RE TALKING ABOUT. SO WHEN WE’RE THINKING IN TERMS
OF LONG-TERM FOLLOW-UP, WE’RE ACTUALLY ASSESSING THE NEEDS OF
THE CHILDREN AND FAMILIES, REGARDING NOT ONLY THE DISEASE
MANAGEMENT AND TREATMENT, BUT WE ALSO HAVE TO LOOK AT
PREVENTATIVE CARE, SO THAT COMBINATION IS CRITICALLY
IMPORTANT. TRACKING OF THE CLINICAL
OUTCOMES OF CHILDREN MORE EFFECTIVELY WILL IMPROVE THE
QUALITY OF DATA, AND TRACKING AND SURVEILLANCE SYSTEMS AND
THAT WILL THEN INFORM THE PROTOCOL THAT WE NEED TO USE AND
THEREBY INFORM THE ULTIMATE GOAL, WHICH IS BETTER OUTCOMES
FOR CHILDREN AND FAMILIES. FOR SOME OF THE MORE NEWLY
DESCRIBED AND LESS COMMON CONDITIONS, THE NATURAL HISTORY
OF THE DISEASES IS NOT SO EVIDENT, AND SO APPROPRIATE
MANAGEMENT MAY BE UNCLEAR. AGAIN, LONG-TERM FOLLOW-UP WILL
PROVIDE THE DATA TO BETTER INFORM THAT TREATMENT, AND WILL
HELP WITH THE DEVELOPMENT OF CARE GUIDELINES AND CLINICAL
DECISION SUPPORT. SO THERE ARE MANY BARRIERS TO
LONG-TERM FOLLOW-UP, AND I’VE LISTED FOUR HERE. WHEN WE’RE TALKING IN TERMS OF
FAMILY-CENTERED CARE, THAT’S — THAT IS A WHOLE NEW AND
IMPORTANT APPROACH TO CARE, WHEN WE’RE TALKING IN TERMS OF
MEDICAL HOME, FAMILY-CENTERED CARE AND PARTNERSHIPS ARE THE
KEY TO MEDICAL HOMES, BUT PART OF THE FAMILY CENTEREDNESS MEANS
THAT WE’RE REALLY LOOKING AT THE TIMELY DISSEMINATION OF
UNDERSTANDABLE INFORMATION, UNDERSTANDABLE INFORMATION, AND
IT MUST INCLUDE AN UNDERSTANDING OF THE IMPORTANCE OF FOLLOW-UP,
OR WE’LL JUST HEAR WHAT WE JUST HEARD FROM SCOTT WITH RESPECT TO
HYPOTHYROIDISM. THE HETEROGENAEIITY I WOULD
COMPLICATE FOLLOW-UP AND WITH HEALTH SYSTEMS WE ACTUALLY SEE,
SOMETIMES SEE SLOW ADOPTION OF DATA STANDARDS AND NOMENCLATURE,
AS WELL AS VARIABILITY IN THE WORKFORCE. IF PRIMARY CARE PROVIDERS
ACTUALLY HAVE AN ELECTRONIC HEALTH RECORD, YOU HAVE THE BIG
TURNOUT TALKING ABOUT EHRs THE LAST TIME, IF THEY ACTUALLY HAVE
EHRs, INNER OPERABILITY IS OFTEN NOT THERE, AND PARTICULARLY
INNER OPERABILITY WITH THE PUBLIC HEALTH SYSTEM IS OFTEN
LACKING. IN THE CAPACITY OF STATE
PROGRAMS, IT IS VARIABLE AND IN TALKING IN TERMS OF OWNERSHIP
WE’RE TALKING IN TERMS OF OWNERSHIP AS WELL AS
ACCOUNTABILITY. SO THE CURRENT STATUS OF
LONG-TERM FOLLOW-UP AS DR. GROSSE JUST DISCUSSED NEWBORN
SCREENING RESOURCES ARE OFTEN FOCUSED ON THE DIAGNOSIS AND
SHORT TERM FOLLOW-UP DUE TO SOME OF THE CHALLENGES THAT ACTUALLY
OCCUR WITH TIMELY CONFIRMATORY TESTING BOTH IN NEWBORN BLOOD
SCREENING AND NEWBORN HEARING SCREENING, AND ONE OF THE THINGS
THAT WE SAW AT THE STATE LEVEL WHEN I WAS OVER IN NEWBORN
SCREENING IS THAT OFTEN THE INFANTS DIDN’T HAVE A HAVE A
MEDICAL HOME THAT WE COULD FIND TO SEND THE INFORMATION BACK TO. IT HADN’T BEEN IDENTIFIED AT THE
TIME OF SCREENING SO THERE ARE REAL PROBLEMS OR THERE MAY BE
REAL PROBLEMS. HERE’S THE GOOD NEWS. PEDIATRICIANS ACTUALLY FEEL THAT
THEY ARE AND SHOULD BE THE PRIMARY COORDINATORS OF CARE. UNFORTUNATELY, FROM A STUDY THAT
WAS FROM A PERIODIC SURVEY A COUPLE, THREE YEARS AGO, ONLY
LESS THAN 48% REALLY DEVELOPED A CARE PLAN IN COLLABORATION WITH
OTHER HEALTH CARE PROFESSIONALS AND AGENCIES. THAT’S A CONCERN. IN ADDITION, IF YOU LOOK AT THIS
NUMBER, 56% OF SFAT NEWBORN SCREENING PROGRAMS REPORTED THAT
THEY REALLY DON’T COLLECT LONG-TERM FOLLOW-UP DATA. SO WHAT ARE SOME OF THE GAPS
THAT WE CAN HELP FILL? THESE DISEASES ARE VERY COMPLEX,
AND MAY BE RARE, AND THEY, MOST COMMONLY, REQUIRE CO-MANAGEMENT
BY PRIMARY CARE PROVIDERS AND PEDIATRIC SPECIALISTS. HOWEVER, WHEN WE’RE TALKING
ABOUT CO-MANAGEMENT, IT’S VERY DIFFICULT AND USUALLY ISN’T
FUNDED. THERE HAS TO BE ENHANCEMENT
BETWEEN COMMUNICATION BETWEEN PRIMARY CARE PROVIDERS AND STATE
SCREENING PROGRAMS AND ALSO WHEN WE LOOK AT GATHERING UNIFORM
LONG-TERM FOLLOW-UP DATA IT’S A CHALLENGE BECAUSE WE’RE LOOKING
AT VARYING CASE DEFINITIONS, SPARSE FOLLOW-UP DATA SYSTEMS
AND OFTEN STATE SPECIFIC DATA COLLECTION. TO FOR THE NEXT FEW MINUTES
WE’LL CONSIDER SOME OF THE OPPORTUNITIES FOR PARTNERSHIP
AND IMPROVEMENT, AT LEAST IN THESE FIVE AREAS. SO PARTNERSHIPS HAVE TO OCCUR AT
THE NATIONAL LEVEL, AT THE STATE LEVEL AND AT THE LOCAL LEVEL. NATIONAL PARTNERSHIPS ACTUALLY
PROVIDE A FORUM FOR PROVIDERS, FOR PUBLIC HEALTH AND FOR
FAMILIES TO COLLABORATE, AND WE WERE TALKING ABOUT
COLLABORATION, WE WERE LOOKING AT A WIDE VARIETY OF WAYS TO
COLLABORATE, FROM DATA COLLECTION TO EDUCATION, TO THE
LABORATORY SERVICES THAT WE’VE HEARD ABOUT, CLINICAL SERVICES,
AND ETHICS. AT THE STATE LEVEL, PARTNERSHIPS
MAY BE VERY IMPORTANT WITH CHAPTERS OF DIFFERENT
PROFESSIONAL OR PROFESSIONAL SOCIETIES AND OTHERS, AND AT THE
LOCAL LEVEL, I BELIEVE THAT WE REALLY HAVE TO LOOK AT
ESTABLISHING PARTNERSHIPS BETWEEN NEWBORN SCREENING
PROGRAMS, TITLE V AND PROVIDERS. SO HERE’S SOME GOOD NEWS, A
VARIETY OF RESOURCES AND INFORMATION ARE AVAILABLE TO
SUPPORT THE PARTNERSHIP BETWEEN PUBLIC HEALTH AND PROVIDERS. IN THIS SLIDE I’VE LISTED FIVE
OF THEM, AND YOU’VE HEARD FROM ONE TODAY AND THAT’S THE GENETIC
ALLIANCE. SO WHAT ABOUT THIS COORDINATION
OF CARE? AS WE’VE HEARD AND AS YOU KNOW,
THEE DISORDERS ARE COMPLEX, AND THEY OFTEN REQUIRE PRIMARY CARE
AND MULTIPLE SPECIALISTS, IN ADDITION, OTHER PHYSICAL
THERAPIES, THERE HAVE TO BE ONGOING DEVELOPMENTAL
ASSESSMENTS AND INTERVENTIONS. OFTEN WE NEED SOCIAL SERVICES
INVOLVED AND THEN THERE’S PUBLIC AND PRIVATE INSURANCE AND
FUNDING, SO PATIENTS WITH THESE COMPLEX CONDITIONS WILL BENEFIT
NOT JUST FROM A CARE PLAN, BUT FROM A VERY COMPREHENSIVE CARE
PLAN AND WHEN WE’RE TALKING WITH PEDIATRICIANS AND OTHER
PROVIDERS WE’RE SAYING THAT THIS CARE PLAN SHOULD INCLUDE A
MEDICAL SUMMARY AND EMERGENCY TREATMENT PLAN, AND ALSO A
MANAGEMENT PLAN. YOU HEARD ME TALK ABOUT
COMANAGEMENT, SO PHYSICIANS AND SPECIALISTS MUST WORK TOGETHER
AND THE WHOLE TEAM TO REALLY CO-MANAGE THE CARE, BUT WHAT HAS
TO HAPPEN WITH CO-MANAGEMENT IS THAT THE ROLES AND
RESPONSIBILITIES HAVE TO BE VERY CLEARLY DEFINED, AND THAT NEEDS
TO BE MADE CLEAR TO ALL FAMILIES BUT I WILL TELL YOU IT
PARTICULARLY HAS TO BE MADE CLEAR TO THE FAMILIES WHO NEED
TO KNOW WHERE TO GO TO GET THE HELP AND INFORMATION THAT THEY
NEED, AND THERE HAS TO BE TIMELY EXCHANGE BETWEEN THE MEDICAL
HOME AND THE SUBSPECIALTY AND ALL THE OTHER PROVIDERS, THAT
ARE INVOLVED. NOT EASY BUT CRITICALLY
IMPORTANT. SO THERE ARE MANY NEWBORN
SCREENING INITIATIVES THAT HAVE BEEN DESIGNED TO IMPROVE QUALITY
AND TO DEVELOP THIS EVIDENCE BASE. THE LIST OF EXAMPLES ON THIS
SLIDE REALLY INCLUDE THE USE OF DESIGNATION TOOLS THAT CAN BE
USED IN PRACTICE AND EDUCATION OF PRIMARY CARE PROVIDERS AND
OTHER MEMBERS OF THE TEAM, AND TO REALLY HELP THE WHOLE TEAM
IDENTIFY THE GAPS AND CLOSE THOSE GAPS FOR THE CHILDREN. THERE HAVE BEEN MANY LEARNING
COLLABORATIVES THAT HAVE BEEN DESIGNED TO HELP PRACTICES AND
STATE SYSTEMS CLOSE THESE GAPS, AND SOME OF THE LEARNING
COLLABORATIVES HAVE REALLY LOOKED AT ENHANCING THE DATA
COLLECTION ABOUT REGISTRIES AND WHAT THAT ACTUALLY MEANS AND
THEN THE WHOLE ISSUE OF FOLLOW-UP. I’M PLEASED TO REPORT THAT THE
AMERICAN ACADEMY OF PEDIATRICS HAS DEVELOPED POLICY STATEMENTS
AND GUIDANCE DOCUMENTS THAT SERVE ADS THE BASIS FOR ONGOING
EDUCATION AND QUALITY IMPROVEMENT. YOU SEE THIS ON THE SLIDE. I’VE ALSO LISTED THREE TECHNICAL
ASSISTANCE CENTERS FOR YOUR REFERENCE, CRITICALLY IMPORTANT
AS WE ALL MOVE FORWARD AND FINALLY WE HAVE JUST BEGUN THE
GENETICS AND PRIMARY CARE INSTITUTE, AND THAT’S ACTUALLY A
RECENTLY AWARDED MATERNAL AND CHILD HELP BUREAU AGREEMENT TO
REALLY LOOK AT PROVIDER KNOWLEDGE AND PRACTICE REGARDING
GENETIC MEDICINE AND THAT INCLUDES NEWBORN SCREENING AS
WELL AS FOLLOW-UP. SO THE FIFTH ONE HAS TO DO WITH
POLICY CONSIDERATIONS. THERE’S A NEED FOR GREATER
ATTENTION IN ALIGNING STATE NEWBORN SCREENING PROGRAM
CAPACITY WITH A LONG-TERM FOLLOW-UP. FEDERAL EFFORTS HAVE REALLY
PLACED AN INCREASED EMPHASIS ON STANDARD NATION FOR LONG-TERM
FOLLOW-UP ACTIVITIES. FOR EXAMPLE, THERE HAVE BEEN
INNER AGENCY MEETINGS WHICH OF COURSE INCLUDED CDC TO DEVELOP
STANDARDIZED CASE DEFINITIONS FOR NEWBORN SCREENING DISORDERS,
MUCH LIKE HAS BEEN DONE FOR SOME OF THE INFECTIOUS DISEASE
DISORDERS, TOO. CDC AND OTHER AGENCIES HAVE ALSO
WORKED WITH STATE PROGRAMS AND CLINICIANS TO REALLY LOOK THE
THE COMMON VARIETIESABLES AND STANDARDIZE COLLECTION
PROCEDURES SO WE CAN BEGIN TO LOOK AT MULTISTATE DATA SETS
THAT CAN BE USED WITH RESPECT TO THE NEWBORN SCREENING AND
DISORDERS. AND ULTIMATELY WITH THE
INCREASED EMPHASIS ON HEALTH INFORMATION TECHNOLOGY AND
ELECTRONIC DATA TRANSMISSION, FEDERAL AGENCIES ACROSS THE
BOARD I THINK WILL BE PROMOTING AND FACILITATING THE USE OF
STANDARDIZED ELECTRONIC DATA ACROSS THE UNITED STATES,
CRITICALLY, CRITICALLY IMPORTANT. SO I LOVE THIS SLIDE. THIS IS WHY WE DO WHAT WE DO. YOU HEARD FROM SCOTT, NEWBORN
SCREENING IS A PUBLIC HEALTH SUCCESS. IT SAVES LIVES. IT PREVENTS DISABILITY AS HE
SAYS AND IT SAVES MONEY. JUST CAN’T GET MUCH BETTER THAN
THAT. HOWEVER, IT’S CRITICALLY
IMPORTANT TO AVOID COMPLACENCY, IN ASSUMING IF A BABY IS SCREEN
AND DIAGNOSED THAT HE OR SHE WILL RECEIVE THE OPTIMAL CARE. FOLLOW-UP, LONG-TERM FOLLOW-UP
IS CHALLENGING, BUT DOABLE, THROUGH TRAINING AND
PARTNERSHIPS. IF NEWBORN SCREENING IS WORTH
DOING, AND IT CERTAINLY IS, IT’S WORTH DOING WELL. THANK YOU. [ APPLAUSE ]
>>WE HAVE EIGHT MINUTES FOR QUESTION AND ANSWER. IF IN THE AUDIENCE, PLEASE COME
TO THE MICROPHONE IF YOU’RE IN THE BACK OR IF YOU’RE IN THE
FRONT, PLEASE TAP THE MICROPHONE ON YOUR TABLE.>>SCOTT, I HAVE A QUESTION.>>YES.>>SHOULD I USE THIS ONE OR THE
ONE BACK THERE. THANK YOU, I’M COLLEEN BOYLE
FROM THE NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL
CENTER AT CDC. YOU ALL DID A WONDERFUL JOB IN
TERMS OF PRESENTING NEWBORN SCREENING AND ALL ITS TRIUMPHS
AND ALL OF THE CHALLENGES. I REALLY APPRECIATE THAT, BUT
YOU ALL EMPHASIZED LONG-TERM FOLLOW-UP AND I GUESS SINCE
WE’RE HERE FROM CDC AND THE PUBLIC HEALTH PERSPECTIVE, I
WANTED TO GET YOUR THOUGHTS OF SORT OF WHERE THE, THIS MAY NOT
BE THE RIGHT WORD BUT THE OBLIGATION OF PUBLIC HEALTH TO
LONG-TERM FOLLOW-UP, YOU KNOW, ARE WE REQUIRED OR ARE WE
OBLIGATED IN TERMS OF THE FACT THAT WE SCREENED EVERY CHILD IN
THE COUNTRY FOR THESE MANY CONDITIONS, WHERE IS OUR
OBLIGATION IN TERMS OF FOLLOW-UP, AND HOW DO WE WORK
COLLABORATIVELY WITH THE HEALTH CARE PROVIDER AND THE FAMILIES
IN ASSURING THIS?>>WELL, I’LL GIVE IT A FIRST
RESPONSE, AND THEN WE’LL HAVE EVERYONE ELSE SPEAK. I THINK IT HAS TO DO, COLLEEN,
WITH THE PARTNERSHIP, SO WE NEED THAT PARTNERSHIP TO REALLY LOOK
AT LONG-TERM FOLLOW-UP, BECAUSE IF WE HAVE A MEDICAL HOME, AND
THEY DON’T UNDERSTAND THE NEED OR THE EDUCATION OR THE PIECES
OF THAT, THEY WON’T BE ABLE TO DO THE LONG-TERM FOLLOW-UP ON
THEIR OWN AND WE HAVE TO LOOK AT THE DATA PIECE OF IT, SO UNLESS
WE HAVE PUBLIC HEALTH REALLY LOOKING AT COLLECTING THE DATA
AND THE INFORMATION JUST LIKE WE TALKED ABOUT, I DON’T THINK THAT
WE CAN MOVE FORWARD AND SO FROM MY PERSPECTIVE, FROM A PEDIATRIC
PERSPECTIVE I THINK IT’S BOTH OF OUR RESPONSIBILITIES AND HOW WE
MAKE THAT WORK, THOUGH, I THINK WE’VE IDENTIFIED A LOT, WE
TALKED ABOUT A LOT OF THOSE PROBLEMS. I THINK WE CAN IF IT’S THE
PARTNERSHIP BUT IT’S DIFFICULT.>>I SHOULD REFER THE QUESTION
BACK TO COLLEEN SINCE SHE IS A MEMBER OF THE COMMITTEE AND SHE
HAS CHAIRED THE COMMITTEE WRITING THE DOCUMENT ON
LONG-TERM FOLLOW-UP, I MIGHT ADD, SO BUT I THINK THE BOTTOM
LINE IS THAT OBVIOUSLY THE PUBLIC HEALTH DEPARTMENT HAS TO
BE VERY MUCH INVOLVED WITH THIS. THIS IS THE NEW AREA FOR THE
HEALTH DEPARTMENTS BY AND LARGE. THEY’VE NOT DONE THAT. ON THE OTHER HAND THE FOLLOW-UP
AND CARE USUALLY ENDS WITHIN THE SPECIALIZED CENTERS SO YOU HAVE
TO COLLABORATE, AND WORK, BUT HOPEFULLY THE HEALTH DEPARTMENT
WILL MAINTAIN RECORDS ABOUT WHAT’S HAPPENING AND WHERE THEY
ARE BUT OBVIOUSLY THE ACTUAL CARE AND SO FORTH IS GOING TO BE
IN THE CENTERS.>>PAUL VERNOFF, EMORY. BEAUTIFUL JOB OF SUMMARIZING 40
YEARS OF NEWBORN SCREENING HISTORY FOR EVERYONE. IT’S GREAT. I WANT TO ASK, THOUGH, REALLY
PRIMARILY TO DR. HOWELL, AND TERRY, ALTHOUGH THERE IS A
SYSTEM FOR EVALUATING NEW CONDITIONS THAT GET ON, AND WE
HEARD SUCCESSES OF SKIDs AND CONGENITAL HEART DISEASE AND HOW
THAT’S WORKED, THERE ARE ALSO INSTANCES NOW WHERE WELL-MEANING
PARENTS AND FAMILIES GO DIRECTLY TO THE INDIVIDUAL STATE
LEGISLATURES BECAUSE WE DO HAVE A LABORATORY TEST, BUT WE DON’T
HAVE THE OTHER DATA THAT HAVE GONE THROUGH THE CLEARANCES,
ABOUT LONG-TERM TREATMENT, ET CETERA, ET CETERA, AND IN MANY
STATES AND YOU KNOW WHICH ONES WE’RE TALKING ABOUT HERE, A LOT
OF INFANTS NOW ARE BEING SCREENED FOR OTHER CONDITIONS
THAT REALLY HAVEN’T GONE THROUGH THE RIGOROUS REVIEW PROCESS. I PERSONALLY THINK THESE
FAMILIES AS I SAID ARE VERY WELL INTENTIONED BUT IT SEEMS THAT
THEY GO WITHOUT THE DATA AND THAT, SO WHAT CAN WE DO TO HELP
THEM REALLY UNDERSTAND THE BIGGER PROCESS, OTHER THAN
SAYING YES, WE CAN DETECT THE DISORDER?>>GREAT QUESTION. GENETIC ALLIANCES IN FACT SPOKEN
OUT ABOUT THIS ISSUE ON MANY LEVELS AROUND THESE ADVOCACY
GROUPS PROMOTING A DISEASE OVER ANOTHER DISEASE AND IT’S A HARD
THING. YOU HAVE A KID WITH A DISEASE
YOU WANT TO SEE THE FUTURE OF THAT DISEASE BEING PUT FORWARD. I THINK WHAT WE NEED TO DO AND
WHAT WE DO IS ENCOURAGE THOSE PARENTS TO FILL OUT THE
NOMINATION FORM TO BRING TOGETHER THAT BODY OF EXPERTS
THEY NEED TO DO TREATMENT TESTS, THAT SORT OF THING AND TO
PRESENT IT. SOME HAVE SAID IT TAKES TOO
LONG, THEY DON’T GET TO MY THING, THAT WAY I HAVE EVIDENCE,
AND WE ALL BELIEVE, WE ALL BELIEVE THE END OF ONE IS RIGHT,
BY OUR EXPERIENCE SO GETTING PEOPLE TO UNDERSTAND THE DATA
REALLY DOES SPEAK IS IMPORTANT. I THINK WE’RE ALSO IN A PERIOD,
THOUGH, WHERE WE’RE LOOKING AT A GLOBAL SHIFT AND THAT IS THERE
ARE ALSO COMPANIES THAT ARE READY TO DO A THOUSAND TESTS
BEDSIDE, WITH RESULTS IN TEN MINUTES, AND THAT’S NOT SCIENCE
FICTION, WHERE IF I SAID THAT FIVE YEARS AGO, THAT WOULD BE
COMPLETELY CRAZY SO I THINK AS A PUBLIC HEALTH SYSTEM WE NEED TO
THINK ABOUT NOT JUST THE ADVOCACY OF THE PARENTS WHICH I
THINK WE NEED TO DEAL WITH BUT AS WELL AS THE PROMOTION OF THE
COMPANIES. I’M NOT AGAINST THE COMPANIES
CREATING THE TECHNOLOGIES BUT WHERE DO WE PUT OUR DOLLARS IN
PUBLIC HEALTH TO MAKE THE MOST IMPACT IS THE QUESTION AND HOW
DO WE EDUCATE THE PUBLIC ABOUT WHY THOSE DECISIONS ARE GOOD
ONES.>>ANY OTHER QUESTIONS FROM THE
AUDIENCE?>>YES, CARLA, THIS IS FRANCIS
TERRELL, I’M FROM A TUBERCULOSIS LABORATORY. I WANT TO ASK A QUESTION BESIDES
THE EXAMPLES YOU GAVE IN CALIFORNIA, OREGON AND
MINNESOTA, ARE THERE ANY OTHER ON THE HORIZON AND WHAT EXAMPLES
ARE THERE FOR STATES TO REGIONALIZE OR COLLABORATE WITH
THE NEWBORN TESTING? ARE THERE ANY OTHER MODELS ON
THE HORIZON AS FAR AS REGIONALIZATION OR LABORATORY
TESTING FOR STATES WITH SMALL LABORATORY OPERATIONS BESIDES
THE STATES YOU GAVE, TO REGIONALIZE THEIR TESTING?>>IT’S THE STATE’S DECISION
WITH RESPECT TO WHAT THEY WANT TO DO. I ONLY GAVE A SAMPLING. I HAVE A LARGER SLIDE THAT
DESCRIBES ALL OF THE STATES THAT WORK WITH EACH OTHER, SO YOU
WILL FIND THERE ARE DIFFERENT STATES THAT WILL INTERACT WITH
EACH OTHER AND IT GOES OUT IN A MATTER OF A BID. IT DEPENDS ON THE STATE. IT DEPENDS ON WHAT THEY HAVE AS
PART OF THEIR SCREENING PANEL AND THEY HAVE TO FIND A
CORRESPONDING STATE THAT CHOOSES TO DO THIS SO IT REALLY IS UP TO
THEM TO DECIDE WHETHER OR NOT IT’S GOING TO BE MORE COST
EFFECTIVE TO DO IT INTERNALLY, SOME STATES WILL CONTINUE TO
CHOOSE TO DO IT INTERNALLY. OTHERS WILL LOOK OUTSIDE TO
ACTUALLY DO EITHER ALL OF THE TESTS OR WILL DO A SELECT PANEL
OF THE TEST BUT AGAIN THAT DEPENDS ON THE EXPERTISE THEY
HAVE IN HOUSE AND IT DEPENDS ON THEIR LONG RANGE PLANS AND
DEPENDS ON THE LAWS THAT EXIST WITHIN THEIR OWN SYSTEM.>>LET ME MAKE ANOTHER BRIEF
COMMENT. THERE ARE TWO THINGS HERE, A
SCREENING TEST AND THEN THE CONFIRMATION AND PARTICULARLY IN
THE CONFIRMATORY TESTS AND FOLLOW-UP THERE’S INCREASING
COOPERATION THROUGH THE REGIONAL COLLABORATIVES. THE UNITED STATES IS DIVIDED
INTO REGIONS UNDER THE HRSA AND THEY’RE SAYING THIS IS A
CONFIRMATORY TEST FOR CRABBE DISEASE, FOR EXAMPLE, AND I
THINK THEY’RE MAKING CONSIDERABLE PROGRESS IN THAT
AREA.>>THANK YOU VERY MUCH FOR YOUR
ATTENDANCE. DR. POPOVIC?>>THOSE OF YOU WHO ARE HERE IN
PERSON, THANK YOU FOR COMING IN PERSON. THOSE OF YOU WHO ARE WATCHING
LIVE, THANK YOU AS WELL AND WE’LL SEE YOU SAME TIME, SAME
PLACE IN FOUR WEEKS. THANK YOU.

2 thoughts on “Newborn Screening: Improving Outcomes

  1. There needs to be a second test done to prove the infant has a genetic disease because the false positive test puts unneeded stress on parents and wastes their time and money

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