§ 241 — Rare disease advisory council; membership; duties; funding; reports

Section 241. (a) For the purposes of this section the following words shall, unless the context clearly requires otherwise, have the following meanings:-″Rare disease'', any disease that affects fewer than 200,000 people in the United States, has status as an orphan disease for research purposes or is known to be substantially under-diagnosed and unrecognized as a result of lack of adequate diagnostic and research information.''Rare disease care'', the academic research of a rare disease or the medical treatment of individuals diagnosed with a rare disease.(b) There shall be a rare disease advisory council within the department, which shall consist of: the commissioner, or a designee, who shall serve as chair; the executive director, or a designee, of the health policy commission; 2 members of the senate, or a designee, 1 of whom shall be appointed by the minority leader of the senate; 2 members of the house of representatives, or a designee, 1 of whom shall be appointed by the minority leader of the house; 4 persons appointed by the senate president, 1 of whom shall be a pharmacist with experience with drugs used to treat rare diseases, 1 of whom shall be a geneticist licensed and practicing in the commonwealth and 1 of whom shall be a registered nurse or advanced practice registered nurse licensed and practicing in the commonwealth with experience treating rare diseases; 4 persons appointed by the speaker of the house, 1 of whom shall be a representative of a health plan or accountable care organization certified by the health policy commission, 1 of whom shall be a genetic counselor with experience providing services to persons diagnosed with a rare disease and 1 of whom shall be a representative from a rehabilitation facility that provides rare disease care; and 15 persons to be appointed by the governor, 2 of whom shall be from academic research institutions that receive grant funding for rare diseases research, 2 of whom shall be physicians licensed and practicing in the commonwealth with experience researching, diagnosing or treating rare diseases, 1 of whom shall be a hospital administrator, or a designee, from a hospital in the commonwealth that provides care to persons diagnosed with a rare disease; 1 of whom shall be a hospital administrator, or a designee, from a hospital in the commonwealth that provides care to persons diagnosed with a rare disease and in which the scope of service focuses on rare diseases of pediatric patients, 3 of whom shall be representatives of rare disease patient organizations that operate in the commonwealth, 2 of whom shall be representatives of the biotechnology and scientific community who are engaged in rare disease research, including, but not limited to, a medical researcher with experience conducting research on rare diseases, 1 of whom shall be a dietician licensed and practicing in the commonwealth with experience administering dietary therapies to those with rare diseases, 2 of whom shall be persons age 18 or older who have a rare disease and 1 of whom shall be a caregiver of a person with a rare disease.(c) Each member of the rare disease advisory council shall serve for a term of 3 years and shall serve until their successors have been appointed. The advisory council shall meet periodically not fewer than 4 times annually, with members able to participate in any meeting by teleconference. The members of the advisory council shall serve without compensation. The commissioner shall provide the advisory council with suitable accommodations for its meetings and the department shall further provide administrative support to assist the advisory council.(d) The rare disease advisory council shall advise the governor, the general court and the department on the incidence of rare disease within the commonwealth and the status of the rare disease community. To achieve its purpose, the advisory council shall:(i) coordinate the performance of the rare disease advisory council's duties with those of other rare disease advisory bodies, community-based organizations and other public and private organizations within the commonwealth for the purpose of ensuring greater cooperation regarding the research, diagnosis and treatment of rare diseases. The coordination shall require, when appropriate: (A) disseminating the outcomes of the advisory council's research, identified best practices and policy recommendations; and (B) utilizing common research collection and dissemination procedures;(ii) using existing publicly available records and information, undertake a statistical and qualitative examination of the prevalence and causes of rare disease to develop a profile of the social and economic burden of rare disease in the commonwealth;(iii) receive and consider reports and testimony from expert individuals, the department, community-based organizations, voluntary health organizations, health care providers and other public and private organizations recognized as having expertise in rare disease care, to learn about their contributions to rare disease care and possibilities for the improvement of rare disease care in the commonwealth;(iv) develop methods to publicize the profile of the social and economic burden of rare disease in the commonwealth to ensure that the public and health care providers are sufficiently informed of the most effective strategies for recognizing and treating rare disease;(v) determine the human impact and economic implications of early treatment of rare diseases versus delayed or inappropriate treatment of rare disease as it pertains to the quality of care, the quality of patients' and their families' lives and the economic burdens, including insurance reimbursements, rehabilitation, hospitalization and related services, on patients, families and the commonwealth;(vi) evaluate the current system of rare disease treatment and available public resources to develop recommendations to increase rare disease survival rates, improve quality of life and prevent and control risks of comorbidities for rare disease, based on available scientific evidence;(vii) research and determine the most appropriate method for the commonwealth to collect rare disease data, including a database of all rare diseases identified in the commonwealth along with known best practices for care of said diseases and such additional information concerning these cases as the advisory committee deems necessary and appropriate to conduct thorough and complete epidemiological surveys of rare diseases, subject to all applicable privacy laws and protections;(viii) examine the feasibility of developing a rare disease information and patient support network in the commonwealth to aid in determining any genetic or environmental contributors to rare diseases; and(ix) develop and maintain a comprehensive rare disease plan for the commonwealth utilizing any information and materials received or developed by the advisory council pursuant to this subsection and that shall include information specifically directed toward the general public, state and local officials, state agencies, private organizations and associations and businesses and industries.(e) The advisory council may accept and solicit funds, including any gifts, donations, grants or bequests or any federal funds, for any of the purposes of this section. Such funds shall be deposited in a separate account with the state treasurer, be received by the treasurer on behalf of the commonwealth, and be expended by the advisory council in accordance with the law.(f) Annually, not later than December 31, the advisory council shall file a report with the clerks of the house of representatives and the senate and the executive office for administration and finance, which shall include, but not be limited to: (i) a summary of the current state of the comprehensive rare disease plan for the commonwealth; (ii) those actions taken and progress made toward achieving implementation of the comprehensive rare disease plan; (iii) an accounting of all funds received by the council and the source of those funds; (iv) an accounting of all funds expended by the council; and (v) to the extent practicable, an estimate of any cost savings on the part of individuals and the commonwealth that will occur upon full implementation of the comprehensive rare disease plan and accompanying programs.