Introduction
The state of Goa in India launched a newborn screening (NBS) program for all infants born in government healthcare facilities in 2008. This is the first program of its kind in India (and possibly in the developing world) where newborns are screened for nearly 50 Inborn Errors of Metabolism (IEMs or metabolic disorders). Goa OverviewGoa, on the west coast of India, a former Portuguese colony, became a part of India in December 1961. It is the smallest state in India and occupies 3,700 square kilometers. The state is divided into two districts: North Goa and South Goa. Panaji is the headquarters of the North Goa district and Margao of the South district. The districts are further divided into eleven Talukas. Goa's major cities include Vasco, Margao, Mormugao, Panjim and Mapusa. Goa's population is approximately 1.4 Million. Nearly 25,000 babies are born every year in Goa, of which about 9,000 are born in government healthcare facilities located all over the state. Healthcare OverviewOrganization Structure
The Directorate of Health Services (DHS) is the primary government organization that manages health services in Goa. Goa's healthcare network comprises of major district hospitals, primary healthcare centers (PHC) and community healthcare centers (CHC). The Goa Medical College Hospital, run by the state but does not come under the jurisdiction of DHS, is the main hospital in Goa where complex cases are referred to. Medical Facilities
The three major hospitals are the Goa Medical College Hospital (GMC), Asilo (North Goa) and Hospicio (South Goa). There are 19 PHCs, 5 CHCs and a number of sub-health centers. Of these, 13 PHCs and all CHCs provide 24 hour healthcare and have gynecological and pediatric facilities. In addition to these, there are other facilities in urban centers focusing on specialized services. All healthcare facilities in Goa (even the remotest CHC) have very competent and dedicated healthcare workers who are fluent in English. This healthcare network is critical in keeping Goa's health indicators above the Indian average. Medical Insurance SchemeGoa has a medical insurance scheme that covers its citizens based on income. A Goan with an annual income below Rs. 60,000 (USD 1,250) is entitled to a mediclaim policy to cover medical expenses. The newborn screening program is covered under this program. Healthcare Advisory CouncilThe Goa Healthcare Advisory Council (GHAC), headed by the Health Minister, is a panel of experts from Goa, India and abroad who meet periodically to identify health issues affecting Goans and solutions to address them. Many new and innovative programs to improve healthcare in Goa have been initiated by the council and implemented by the government. A proposal to screen newborns in Goa was first presented in this forum. Goa “Heel to Heal” Newborn Screening ProgramAll babies born in Goa government healthcare facilities are entitled to a newborn screening test. The cost of the test is borne by the government. The program was officially launched on June 14, 2008. Comprehensive Newborn Screening PanelThe screening panel for Goa is based on the processing of a dried blood sample (DBS) for a variety of reasons. The foremost reason is that nearly all comprehensive NBS programs in the world has standardized on it. Also, CDC’s Newborn Screening Quality Assurance Program is based on DBS. The ease in collecting and transporting the sample is very appealing. The panel screens for the following disorders. Disorders detected by Tandem Mass Spectrometry (MS/MS)
Disorders detected by Biochemical Assays
In June 2008, the program was started at GMC. The limited roll out identified and resolved teething problems before launching in other hospitals. By mid-July 2008, Asilo and Hospicio hospitals were brought on board. At this point in time, about 70% of births in government healthcare facilities were covered. In October 2008, select PHCs came on line. By March 2009, all government birthing facilities were covered. TrainingIn early June 2008, healthcare workers in the major hospitals were trained on the heel stick blood collection and acceptable dried blood spots. Questions and concerns about newborn screening were answered in each session held at the hospitals and health centers. By the end of 2008, nearly all healthcare workers (over 300) involved in screening were trained and, in some instances, were given a refresher course. Training was conducted in English. Collection and Reporting ProcessA bar coded filter paper is used to collect the sample. A special foil pouch is
used to transport the sample and protect it from degradation. A single use
disposable lancet for the heal stick is provided with each filter paper kit. Specially designed filter paper (that meets CLSI requirements for newborn screening) and packaging for the Indian environment, and a single use disposable lancet for a heel stick are provided to all healthcare facilities. Filter Paper kits and lancets are stocked at hospitals, PHCs and CHCs. Samples are collected every day, except Sundays and holidays, from GMC and 4 days a week, each from Asilo and Hospicio. All PHCs and CHCs send their samples to GMC, Asilo or Hospicio. They are dispatched by overnight courier to NeoGen Labs, Bangalore. |
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Based on arrival dates and lab schedules, reports are ready within 2 to 5 days. Positive cases are communicated verbally and by e-mail to the physician as soon as they are known. Additional literature and ACMG ACT sheets are also provided. All reports are electronically sent to GMC, where they are printed and distributed to the hospitals, PHCs and CHCs. Treatments and CounselingAs soon as an elevated or presumptive positive case is identified, the local representative in Goa is informed, who then contacts the appropriate healthcare professionals. She coordinates the next steps (tracking down the parents, access to experts for the doctors to consult, information on treatments, availability of diets and confirmatory testing). She will also arrange for parent counseling at GMC and is responsible for monitoring infants for follow up treatments, if necessary. A limited quantity of diets are available at GMC for beginning treatment immediately. Dieticians at the vendors providing diets are available for consultations with local dieticians to prepare and administer diets for treatments. The cost of the confirmatory testing and treatments (based on income levels) is borne by the Goa government. Continuing EducationSince this is a unique program and the first one in India, importance was given to disseminating information to the local medical community on treating and managing these disorders. Periodic seminars and information sessions are organized in Goa. Program ResultsIn its first year, the screening program has detected 51 disorders. The screening lab identified these cases as Presumptive Positive. In all cases, confirmatory tests have been recommended and done, except for fatty acid oxidation disorders (FAOD). The FAOD cases have not undergone confirmatory testing due to the absence of adequate testing facilities in India. Instead, these children are monitored and all parents of affected infants are counseled. The preliminary incidence data based on the screens done in Goa in the first year is approximately 1 in 160 cases. While high, this statistic may well be representative of the true incidence rate for IEMs across India. Program Issues
Preliminary indications are that the program is on the road to success. Issues that have been raised will be addressed in the near future as awareness increases and the bureaucratic problems are surmounted. The following were factors that have played a significant role in Goa's program.
We thank Mr. Vishwajit Rane, Health Minister, Government of Goa, Dr. Rajnanda Dessai, Director of Health Services, and her staff, and the Goa government healthcare professionals for their commitment to making this program a success. References
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