,,ii #aacth ,,congress #ast ,session ,s4 #ijh ,,in ,,the ,,senate ,,of ,,the ,,united ,,states ,may #h1 #bjac ,mr4 ,johnson of ,south ,dakota introduced the following bill2 which was read twice and referred to the ,committee on ,health1 ,education1 ,labor1 and ,pensions ,a ,,bill ,to amend the ,public ,health ,service ,act to improve the diagnosis and treatment of hereditary hemorrhagic telangiectasia1 and for other purposes4 #a4 ,short title ,this ,act may be cited as the ,hereditary ,hemorrhagic ,telangiectasia ,diagnosis and ,treatment ,act of #bjac4 #b4 ,findings ,the ,congress finds as follows3 7#a7 ,hereditary hemorrhagic telangiectasia 7referred to in this section as ,,hht7 is a largely undiagnosed or misdiagnosed vascular genetic bleeding disorder resulting in artery-vein malformations 7referred to in this section as ,a,v,ms71 which lead to preventable1 catastrophic and disabling consequences4 ,,hht can cause sudden death at any age1 unless detected and treated4 ,early detection1 screening1 and use of readily available treatment can prevent premature deaths and long-term health complications resulting from ,,hht4 ,a person with ,,hht has the tendency to form blood vessels that lack the capillaries between an artery and vein4 ,,hht often results in spontaneous hemorrhage or stroke from brain or lung ,a,v,ms4 ,in addition to hemorrhagic stroke1 embolic stroke and brain abscess occur in approximately #cj percent of individuals with ,,hht ,a,v,ms in the lung 7due to lack of capillaries between the arterial and venous systems that normally filter out clots and bacteria74 7#b7 ,one in #e1jjj ,american children and adults suffer from ,,hht4 7#c7 ,studies have found an increase in morbidity and mortality rates for individuals who suffer from ,,hht4 7#d7 ,due to the widespread lack of knowledge1 accurate diagnosis1 and appropriate intervention1 #ij percent of ,,hht-affected families are at risk for preventable life-threatening and disabling medical incidents such as stroke4 7#e7 ,early detection1 screening1 and treatment can prevent premature deaths1 spontaneous hemorrhage1 hemorrhagic stroke1 embolic stroke1 brain abscess1 and other long-term health care complications resulting from ,,hht4 7#f7 ,,hht is an important health condition with serious health consequences which are amenable to early identification and diagnosis with suitable tests1 and acceptable and available treatments in established treatment centers4 7#g7 ,timely identification and management of ,,hht cases is an important public health objective because it will save lives1 prevent disability1 and reduce direct and indirect health care costs expenditures4 ,a recent study has found use of a genetic testing model for ,,hht diagnosis saves #i1ijj1jjj if screening is limited to individuals within the family groups that have the gene defect1 leading to early intervention in individuals found to have treatable ,a,v,ms4 7#h7 ,without a new program for early detection1 screening1 and treatment1 #ad1jjj children and adults who suffer from ,,hht in the population today will suffer premature death and disability4 #c4 ,purpose ,the purpose of this ,act is to create a federally led and financed initiative for early diagnosis and appropriate treatment of hereditary hemorrhagic telangiectasia that will result in the reduction of the suffering of families1 prevent premature death and disability1 and lower health care costs through proven treatment interventions4 #d4 ,national ,institutes of ,health ,part ,b of title ,,iv of the ,public ,health ,service ,act 7#db ,u4,s4,c4 #bhd et seq47 is amended by adding at the end the following3 #dji,k4 ,hereditary hemorrhagic telangiectasia 7a7 ,,hht ,initiative 7#a7 ,establishment ,the ,secretary shall establish and implement an ,,hht initiative to assist in coordinating activities to improve early detection1 screening1 and treatment of people who suffer from ,,hht4 ,such initiative shall focus on-- 7,a7 advancing research on the causes1 diagnosis1 and treatment of ,,hht1 including through the conduct or support of such research2 and 7,b7 increasing physician and public awareness of ,,hht4 7#b7 ,consultation ,in carrying out this subsection1 the ,secretary shall consult with the ,director of the ,national ,institutes of ,health and the ,director of the ,centers for ,disease ,control and ,prevention4 7b7 ,,hht ,coordinating ,committee 7#a7 ,establishment ,not later than #fj days after the date of the enactment of this section1 the ,secretary1 in consultation with the ,director of the ,national ,institutes of ,health1 shall establish a committee to be known as the ,,hht ,coordinating ,committee4 7#b7 ,membership 7,a7 ,in general ,the members of the ,committee shall be appointed by the ,secretary1 in consultation with the ,director of the ,national ,institutes of ,health1 and shall consist of #ab individuals who are experts in ,,hht or arteriovenous malformation 7,,avm7 as follows3 7i7 ,four representatives of ,,hht ,treatment ,centers of ,excellence designated under section #cag,u7c77#a74 7ii7 ,four experts in vascular1 molecular1 or basic science4 7iii7 ,four representatives of the ,national ,institutes of ,health4 7,b7 ,chair ,the ,secretary shall designate the ,chair of the ,committee from among its members4 7,c7 ,interim members ,in place of the #d members otherwise required to be appointed under subparagraph 7,a77i71 the ,secretary may appoint #d experts in vascular1 molecular1 or basic science to serve as members of the ,committee during the period preceding designation and establishment of ,,hht ,treatment ,centers of ,excellence under section #cag,u4 7,d7 ,publication of names ,not later than #cj days after the establishment of the ,committee1 the ,secretary shall publish the names of the ,chair and members of the ,committee on the ,website of the ,department of ,health and ,human ,services4 7,e7 ,terms ,the members of the ,committee shall each be appointed for a #c-year term and1 at the end of each such term1 may be reappointed4 7,f7 ,vacancies ,a vacancy on the ,committee shall be filled by the ,secretary in the same manner in which the original appointment was made4 7#c7 ,responsibilities ,the ,committee shall develop and coordinate implementation of a plan to advance research and understanding of ,,hht by-- 7,a7 conducting or supporting basic1 translational1 and clinical research on ,,hht across the relevant national research institutes1 national centers1 and offices of the ,national ,institutes of ,health1 including the ,national ,heart1 ,lung1 and ,blood ,institute2 the ,national ,institute of ,neurological ,disorders and ,stroke2 the ,national ,institutes of ,diabetes and ,digestive and ,kidney ,diseases2 the ,eunice ,kennedy ,shriver ,national ,institute of ,child ,health and ,human ,development2 the ,national ,cancer ,institute2 and the ,office of ,rare ,diseases2 and 7,b7 conducting evaluations and making recommendations to the ,secretary1 the ,director of the ,national ,institutes of ,health1 and the ,director of the ,national ,cancer ,institute regarding the prioritization and award of ,national ,institutes of ,health research grants relating to ,,hht1 including with respect to grants for-- 7i7 expand understanding of ,,hht through basic1 translational1 and clinical research on the cause1 diagnosis1 prevention1 control1 and treatment of ,,hht2 7ii7 training programs on ,,hht for scientists and health professionals2 and 7iii7 ,,hht genetic testing research to improve the accuracy of genetic testing4 7c7 ,definitions ,in this section3 7#a7 ,the term ,committee means the ,,hht ,coordinating ,committee established under subsection 7b74 7#b7 ,the term ,,hht means hereditary hemorrhagic telangiectasia4 4 #e4 ,centers for disease control and prevention ,part ,b of title ,,iii of the ,public ,health ,service ,act is amended by inserting after section #cag,t 7#db ,u4,s4,c4 #bdg;b-#bb7 the following3 #cag,u4 ,hereditary hemorrhagic telangiectasia 7a7 ,in general ,with respect to hereditary hemorrhagic telangiectasia 7in this section referred to as ,,hht71 the ,director of the ,centers for ,disease ,control and ,prevention 7in this section referred to as the ,director7 shall carry out the following activities3 7#a7 ,the conduct of population screening described in subsection 7c74 7#b7 ,the identification and conduct of investigations to further develop and support guidelines for diagnosis of1 and intervention for1 ,,hht1 including cost-benefit studies4 7#c7 ,the development of a standardized survey and screening tool on family history4 7#d7 ,the establishment1 in collaboration with a voluntary health organization representing ,,hht families1 of an ,,hht resource center within the ,centers for ,disease ,control and ,prevention to provide comprehensive education on1 and disseminate information about1 ,,hht to health professionals1 patients1 industry1 and the public4 7#e7 ,the conduct or support of public awareness programs in collaboration with medical1 genetic1 and professional organizations to improve the education of health professionals about ,,hht4 7b7 ,collaborative approaches ,the ,director shall carry out this section through collaborative approaches within the ,national ,center on ,birth ,defects and ,developmental ,disabilities and the ,division for ,heart ,disease and ,stroke ,prevention of the ,centers for ,disease ,control and ,prevention with respect to clotting and bleeding disorders4 7c7 ,population screening ,in carrying out population screening under subsection 7a77#a71 the ,director shall-- 7#a7 designate and provide funding for a sufficient number of ,,hht ,treatment ,centers of ,excellence to improve patient access to information1 treatment1 and care by ,,hht experts2 7#b7 conduct surveillance through a population study1 supplemented by sentinel health care provider or center surveillance1 and by administrative database analyses1 as useful1 to accurately identify-- 7,a7 the prevalence of ,,hht2 and 7,b7 the prevalence of hemorrhagic and embolic stroke and brain abscess1 resulting from ,,hht2 7#c7 include ,,hht screening questions in the ,behavioral ,risk ,factor ,surveillance ,system survey conducted by the ,centers for ,disease ,control and ,prevention in order to screen a broader population and more accurately determine the prevalence of ,,hht2 7#d7 provide data collected under paragraph 7#b77;,b7 to the ,paul ,coverdell ,national ,acute ,stroke ,registry1 to facilitate-- 7,a7 analyses of the natural history of hemorrhagic and embolic stroke in ,,hht2 and 7,b7 the development of screening and artery-vein malformation treatment guidelines specific to prevention of complications from ,,hht2 7#e7 develop and implement programs1 targeted for physicians and health care professional groups likely to be accessed by families with ,,hht1 to increase ,,hht diagnosis and treatment rates through the-- 7,a7 establishment of a partnership with ,,hht ,treatment ,centers of ,excellence designated under paragraph 7#a7 through the creation of a database of patients assessed at such ,,hht ,treatment ,centers of ,excellence 7including with respect to phenotype information1 genotype information1 transfusion dependence1 and radiological findings72 7,b7 integration of such database with-- 7i7 the universal data collection system used by the ,centers for monitoring hemophilia with the blood disorders2 and 7ii7 the ,paul ,coverdell ,national ,acute ,stroke ,registry2 and 7,c7 inclusion of other medical providers who treat ,,hht patients2 and 7#f7 use existing administrative databases on non-,,hht ,treatment ,center of ,excellence patients-- 7,a7 to learn about the natural history of ,,hht and the efficacy of various treatment modalities2 and 7,b7 to better inform and develop screening and treatment guidelines associated with improvement in health care outcomes1 and research priorities relevant to ,,hht4 7d7 ,eligibility for designation as ,,hht ,treatment ,center of ,excellence ,in carrying out subsection 7c77#a71 the ,director may designate as an ,,hht ,treatment ,center of ,excellence an academic health center demonstrating each of the following3 7#a7 ,the academic health center possesses a team of medical experts capable of providing comprehensive evaluation1 treatment1 and education to individuals with known or suspected ,,hht and their health care providers4 7#b7 ,the academic health center has sufficient personnel with knowledge about ,,hht1 or formal collaboration with one or more partnering organizations for personnel or resources1 to be able to-- 7,a7 respond in a coordinated1 multidisciplinary way to patient inquiries2 and 7,b7 coordinate evaluation1 treatment1 and education of patients and their families in a timely manner4 7#c7 ,the academic health center has the following personnel1 facilities1 and patient volume3 7,a7 ,a medical director with-- 7i7 specialized knowledge of the main organ manifestations of ,,hht2 and 7ii7 the ability to coordinate the multidisciplinary diagnosis and treatment of patients referred to the center4 7,b7 ,administrative staff with-- 7i7 sufficient knowledge to respond to patient inquiries and coordinate patient care in a timely fashion2 and 7ii7 adequate financial support to allow the staff to commit at least #be to #ej percent of their time on the job to ,,hht4 7,c7 ,an otolaryngologist with experience and expertise in the treatment of recurrent epistaxis in ,,hht patients4 7,d7 ,an interventional radiologist with experience and expertise in the treatment of pulmonary arteriovenous malformations 7,,avm74 7,e7 ,a genetic counselor or geneticist with the expertise to provide ,,hht-specific genetic counseling to patients and families4 7,f7 ,on-site facilities to screen for all major organ manifestations of ,,hht4 7,g7 ,a patient volume of at least #be new ,,hht patients per year4 7,h7 ,established mechanisms to coordinate surveillance and outreach with ,,hht patient advocacy organizations4 4 #f4 ,additional health and human services activities ,with respect to hereditary hemorrhagic telangiectasia 7referred to in this section as ,,hht71 the ,secretary of ,health and ,human ,services1 acting through the ,administrator of the ,centers for ,medicare ,medicaid ,services1 shall award grants on a competitive basis-- 7#a7 for an analysis by grantees of the ,medicare ,provider ,analysis and ,review 7,,medpar7 file to develop preliminary estimates from the ,medicare program under title ,,xviii of the ,social ,security ,act for-- 7,a7 preventable costs of annual health care expenditures associated with untreated ,,hht furnished to individuals with ,,hht1 including items1 services1 and treatments2 and 7,b7 socioeconomic costs associated with preventable medical events among individuals with ,,hht who are entitled to benefits under part ,a of title ,,xviii of the ,social ,security ,act or enrolled under part ,b of such title1 such as disability expenditures2 and 7#b7 to make recommendations regarding an enhanced data collection protocol to permit a more precise determination of the total costs described in paragraph 7#a74 #g4 ,authorization of appropriations 7a7 ,in general ,to carry out section #dji,k of the ,public ,health ,service ,act as added by section #d of this ,act1 section #cag,u of the ,public ,health ,service ,act as added by section #e of this ,act1 and section #f of this ,act1 there is authorized to be appropriated #e1jjj1jjj for each of fiscal years #bjad through #bjah4 7b7 ,resource center ,of the amount authorized to be appropriated under subsection 7a7 for each of fiscal years #bjad through #bjah1 #a1jjj1jjj shall be for carrying out section #cag,u7a77#d7 of the ,public ,health ,service ,act1 as added by section #e of this ,act4