I 

115TH CONGRESS 

2D SESSION H. R. 5115 

To expand and improve the programs and activities of the Department of 

Health and Human Services for awareness, education, research, surveillance, diagnosis, and treatment concerning rare diseases and conditions. 

IN THE HOUSE OF REPRESENTATIVES 

FEBRUARY 27, 2018 

Mr. CARSON of Indiana (for himself and Mr. COSTELLO of Pennsylvania) introduced the following bill; which was referred to the Committee on Energy and Commerce 

A BILL 

To expand and improve the programs and activities of the 

Department of Health and Human Services for awareness, education, research, surveillance, diagnosis, and 

treatment concerning rare diseases and conditions. 

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled, 

3 SECTION 1. SHORT TITLE. 

4 This Act may be cited as the ‘‘Rare disease Advance5 ment, Research, and Education Act of 2018’’ or the 

6 ‘‘RARE Act of 2018’’. 


lotter on DSK3G9T082PROD with BILLS
2 

•HR 5115 IH

1 SEC. 2. IMPROVING PROGRAMS AND ACTIVITIES OF HHS 

2 CONCERNING RARE DISEASES AND CONDI3 TIONS. 

4 (a) NIH.—Paragraph (1) of section 402A(a) of the 

5 Public Health Service Act (42 U.S.C. 282a(a)) is amended 

6 by adding at the end the following: 

7 ‘‘In addition to the amounts authorized to be appro8 priated by the preceding sentence, there is author9 ized to be appropriated $10,000,000 for each of fis10 cal years 2019 through 2023 for carrying out sec11 tion 481A (relating to rare disease regional centers 

12 of excellence).’’. 

13 (b) CDC SURVEILLANCE OF RARE DISEASES AND

14 CONDITIONS.—Title III of the Public Health Service Act 

15 is amended by inserting after section 317T of such Act 

16 (42 U.S.C. 247b–22) the following: 

17 ‘‘SEC. 317U CDC SURVEILLANCE OF RARE DISEASES AND 

18 CONDITIONS. 

19 ‘‘(a) IN GENERAL.—The Secretary, acting through 

20 the Director of the Centers for Disease Control and Pre21 vention and in coordination with other agencies as the Sec22 retary determines, shall, as appropriate— 

23 ‘‘(1) enhance and expand infrastructure and ac24 tivities to track the epidemiology of rare diseases 

25 and conditions; and 


lotter on DSK3G9T082PROD with BILLS
3 

•HR 5115 IH

1 ‘‘(2) incorporate information obtained through 

2 such activities into an integrated surveillance sys3 tem, which may consist of or include a registry, to 

4 be known as the National Rare Disease or Condition 

5 Surveillance System. 

6 ‘‘(b) RESEARCH.—The Secretary shall ensure that 

7 the National Rare Disease or Condition Surveillance Sys8 tem is designed in a manner that facilitates further re9 search on rare diseases and conditions. 

10 ‘‘(c) CONTENT.—In carrying out subsection (a), the 

11 Secretary— 

12 ‘‘(1) shall provide for the collection and storage 

13 of information on the incidence and prevalence of 

14 rare diseases and conditions in the United States; 

15 ‘‘(2) to the extent practicable, shall provide for 

16 the collection and storage of other available informa17 tion on rare diseases and conditions, including infor18 mation related to persons living with a rare disease 

19 or condition who choose to participate, such as— 

20 ‘‘(A) demographics, such as age, race, eth21 nicity, sex, geographic location, family history, 

22 and other information, as appropriate; 

23 ‘‘(B) risk factors that may be associated 

24 with a rare disease or condition, such as genetic 


lotter on DSK3G9T082PROD with BILLS
4 

•HR 5115 IH

1 and environmental risk factors and other infor2 mation, as appropriate; and 

3 ‘‘(C) diagnosis and progression markers; 

4 ‘‘(3) to the extent practicable, shall provide for 

5 the collection and storage of information relevant to 

6 analysis on rare diseases and conditions, such as in7 formation concerning— 

8 ‘‘(A) the natural history of the diseases 

9 and conditions; 

10 ‘‘(B) the prevention of the diseases and 

11 conditions; 

12 ‘‘(C) the detection, management, and 

13 treatment approaches for the diseases and con14 ditions; and 

15 ‘‘(D) the development of outcomes meas16 ures; 

17 ‘‘(4) may address issues identified during the 

18 consultation process under subsection (d); and 

19 ‘‘(5) initially may address a limited number of 

20 rare diseases or conditions. 

21 ‘‘(d) CONSULTATION.—In carrying out this section, 

22 the Secretary shall consult with individuals with appro23 priate expertise, which may include— 

24 ‘‘(1) epidemiologists with experience in disease 

25 surveillance or registries; 


lotter on DSK3G9T082PROD with BILLS
5 

•HR 5115 IH

1 ‘‘(2) representatives of national voluntary 

2 health associations that— 

3 ‘‘(A) focus on rare diseases or conditions; 

4 and 

5 ‘‘(B) have demonstrated experience in re6 search, care, or patient services; 

7 ‘‘(3) health information technology experts or 

8 other information management specialists; 

9 ‘‘(4) clinicians with expertise in rare diseases or 

10 conditions; 

11 ‘‘(5) research scientists with expertise in rare 

12 diseases or conditions, or experience conducting 

13 translational research or utilizing surveillance sys14 tems for scientific research purposes; and 

15 ‘‘(6) patients and caregivers of patients with 

16 rare diseases or conditions. 

17 ‘‘(e) GRANTS.—The Secretary may award grants to, 

18 or enter into contracts or cooperative agreements with, 

19 public or private nonprofit entities to carry out activities 

20 under this section. 

21 ‘‘(f) COORDINATION WITH OTHER FEDERAL, STATE, 

22 AND LOCAL AGENCIES.—Subject to subsection (h), the 

23 Secretary shall— 


lotter on DSK3G9T082PROD with BILLS
6 

•HR 5115 IH

1 ‘‘(1) make information and analysis in the Na2 tional Rare Disease or Condition Surveillance Sys3 tem available, as appropriate— 

4 ‘‘(A) to Federal departments and agencies, 

5 such as the National Institutes of Health and 

6 the Department of Veterans Affairs; and 

7 ‘‘(B) to State and local agencies; and 

8 ‘‘(2) identify, build upon, leverage, and coordi9 nate among existing data and surveillance systems, 

10 surveys, registries, and other Federal public health 

11 infrastructure, wherever practicable. 

12 ‘‘(g) PUBLIC ACCESS.—Subject to subsection (h), the 

13 Secretary shall ensure that information and analysis in the 

14 National Rare Disease or Conditions Surveillance System 

15 are available, as appropriate, to the public, including re16 searchers. 

17 ‘‘(h) PRIVACY.—The Secretary shall ensure that in18 formation and analysis in the National Rare Disease or 

19 Condition Surveillance System are made available only to 

20 the extent permitted by applicable Federal and State law, 

21 and in a manner that protects personal privacy, to the ex22 tent required by applicable Federal and State privacy law, 

23 at a minimum. 

24 ‘‘(i) REPORTS.— 


lotter on DSK3G9T082PROD with BILLS
7 

•HR 5115 IH

1 ‘‘(1) REPORT ON INFORMATION AND ANAL2 YSES.—Not later than 1 year after the date on 

3 which any system is established under this section, 

4 the Secretary shall submit an interim report to the 

5 Committee on Health, Education, Labor, and Pen6 sions of the Senate and the Committee on Energy 

7 and Commerce of the House of Representatives re8 garding aggregate information collected pursuant to 

9 this section and epidemiological analyses, as appro10 priate. Such report shall be posted on the Internet 

11 website of the Department of Health and Human 

12 Services and shall be updated biennially. 

13 ‘‘(2) IMPLEMENTATION REPORT.—Not later 

14 than 4 years after the date of the enactment of this 

15 section, the Secretary shall submit a report to the 

16 Congress concerning the implementation of this sec17 tion. Such report shall include information on— 

18 ‘‘(A) the development and maintenance of 

19 the National Rare Disease or Condition Surveil20 lance System; 

21 ‘‘(B) the type of information collected and 

22 stored in the surveillance system; 

23 ‘‘(C) the use and availability of such infor24 mation, including guidelines for such use; and 


lotter on DSK3G9T082PROD with BILLS
8 

•HR 5115 IH

1 ‘‘(D) the use and coordination of databases 

2 that collect or maintain information on rare dis3 eases or conditions. 

4 ‘‘(j) DEFINITIONS.—In this section: 

5 ‘‘(1) NATIONAL VOLUNTARY HEALTH ASSOCIA6 TION.—The term ‘national voluntary health associa7 tion’ means a national nonprofit organization with 

8 chapters, other affiliated organizations, or networks 

9 in States throughout the United States with experi10 ence serving the population of individuals with a 

11 rare disease or condition and have demonstrated ex12 perience in rare disease or condition research, care, 

13 and patient services. 

14 ‘‘(2) RARE.—The term ‘rare’, with respect to a 

15 disease or condition, means affecting fewer than 

16 200,000 individuals in the United States. 

17 ‘‘(k) AUTHORIZATION OF APPROPRIATIONS.—To 

18 carry out this section, there are authorized to be appro19 priated $5,000,000 for each of fiscal years 2018 through 

20 2023.’’. 

21 (c) AHRQ HEALTH CARE PROVIDER AWARENESS

22 ACTIVITIES.— 

23 (1) IN GENERAL.—The Director of the Agency 

24 for Healthcare Research and Quality shall expand 

25 and intensify the activities of the Agency to increase 


lotter on DSK3G9T082PROD with BILLS
9 

•HR 5115 IH

1 the awareness and knowledge of health care pro2 viders about rare diseases and conditions. 

3 (2) DEFINITION.—In this subsection, the term 

4 ‘‘rare diseases and conditions’’ refers to any disease 

5 or condition affecting fewer than 200,000 individuals 

6 in the United States. 

7 (d) NATIONAL ACADEMIES REPORT.— 

8 (1) IN GENERAL.—The Secretary of Health and 

9 Human Services shall seek to enter into an arrange10 ment with the National Academies (or another ap11 propriate entity if the National Academies decline) 

12 to update and republish, by not later than 3 years 

13 after the date of enactment of this Act, the 2010 re14 port of the National Academies entitled ‘‘Rare Dis15 eases and Orphan Products: Accelerating Research 

16 and Development’’. 

17 (2) AUTHORIZATION OF APPROPRIATIONS.—To 

18 carry out this subsection, there is authorized to be 

19 appropriated $1,000,000. 

Æ 


lotter on DSK3G9T082PROD with BILLS