key: cord-0305009-b0lqnyv7 authors: Bonilla, C.; Sortica, V. A.; Schuler-Faccini, L.; Matijasevich, A.; Scheffer, M. C. title: Medical genetics workforce in Brazil: practitioners, services, and disease distribution date: 2021-10-18 journal: nan DOI: 10.1101/2021.10.14.21265027 sha: 57ae4c333bc8a15acee146ded383f9753a520181 doc_id: 305009 cord_uid: b0lqnyv7 Purpose In anticipation of the implementation of personalized medicine (PM) in Brazil we assessed the demographic characteristics of its medical genetics workforce together with the distribution of rare genetic diseases (RGD) and hereditary cancer syndromes (HCS) across municipalities in the country. Methods We used demographic data from an earlier report on medical specialties, and open databases providing summarized data on the public and private healthcare systems, for the years 2019 and 2020. In the public system we considered RGD live births and hospitalizations, and HCS mortality. In the private system we obtained data on RGD, HCS and genetic counselling appointments. Results The 332 registered medical geneticists (MGs) were mostly female, attended a public medical school, and were predominantly registered in the Southeast. The distribution of MGs overlapped the country-wise distribution of all types of genetic disease and service examined, indicating that ~30% of the patient population has access to a MG specialist. Conclusion The Brazilian MG workforce is concentrated in the richest and most populated areas and while it covers a significant proportion of the population there are vast regions with very limited services. The public health system should address these inequalities for a successful transition to PM. Personalized or precision medicine (PM) has been increasingly promoted as the next desirable step in the pathway towards a customized approach to human health and well-being but the benefits to developing countries are not yet clear 1 . PM was defined by the United States (US) National Institutes of Health (NIH) as the "approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person". Essentially, it is proposed that, by focusing on an individual's genetic background and non-genetic exposures, PM will provide the right treatment, for the right person, at the right time, thus making medical practice more efficient and cost-effective 2 . It is undeniable that genetic and genomic testing have become more frequent in the clinic since the sequencing of the human genome was finalized in 2003, driven by rapid technological advances and a decline in the cost of genetic tests. However, the fast pace of expansion of genetic assessments in medicine has not been accompanied by a concomitant growth of the medical genetics workforce 3, 4 . Genetics personnel shortages have been reported in Europe, the US, and other high-income countries, scarcity that is likely to worsen if no efforts are made to increase the number of medical geneticists and other genetic healthcare providers [4] [5] [6] . Given that these circumstances have been shown to affect developed nations, we were interested in assessing the state of affairs in developing countries, which are likely to produce proportionally less specialized genetics professionals. Therefore, we examined the situation in Brazil, a highly populated country with a strong genetics tradition in medical education and research. Brazil has a free at point of care universal health system, the Sistema Único de Saúde (SUS), that ensures equal access to health care services for its population. In addition, 28% of the population is also covered via private health insurance 7 , which is regulated by the National Agency of Supplementary Health under the umbrella of the Ministry of Health. This article presents our findings on the characteristics, professional opportunities for, and distribution of medical geneticists (MGs) in relation to demand for services by patients with rare genetic diseases (RGD) and hereditary cancer syndromes (HCS) across Brazil. RGDs are mostly monogenic conditions, which result from highly penetrant modifications in a single gene. Although each disease exists in very low frequencies (affecting 1.3 in 2000 individuals), they cause major impairments to affected subjects, including death. Conversely, HCS include some multifactorial diseases, which are due to the actions of many genes interacting with the environment, and low penetrance mutations of moderate to high frequencies. As a conclusion from our analysis, we suggest possible avenues through which to expand the medical genetics workforce and/or services to satisfy present needs and in preparation for the growing demand that implementation of PM may require in Brazil. In this analysis we combined data from 2019 and 2020, firstly because these were the latest reports available, but also because 2020 was an atypical year due to the COVID-19 pandemic, and we felt it would not be representative of the situation we wanted to examine. In some cases, information was only available for 2019. Public and private healthcare system databases were accessed during the first semester of 2021. Websites reported were accessed between July and October 2021. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. The demographic study of MGs was part of a larger study of medical doctors in Brazil carried out by Scheffer and colleagues 8 For the analysis of specialist physicians, data from the registration of degrees in the CRMs, the CNRM, and the societies of medical specialties linked to the AMB, was collected. When the geographical distribution of MGs was analysed, specialists with secondary registrations (physicians with an active registration in more than one CRM) were counted in each state where they were acting 8 . Results are presented as absolute (counts) and relative (percentage) frequencies. Associations between variables were assessed using cross-tabulation tests. Information about the residency programs in Medical Genetics was extracted from the website of the Brazilian Society of Medical Genetics and Genomics (SBGM, https://www.sbgm.org.br/). Information about reference centres for rare diseases in Brazil was obtained through the platform Many of Us Are Rare (https://muitossomosraros.com.br/), which acts as a provider of original and relevant content on rare diseases for civil society, health authorities, and the media, and the . CC-BY-NC 4.0 International license It is made available under a perpetuity. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint Table 3 ). Given that ~75% of rare diseases affect children before the age of 5, the addition of HCS was intended as a way of examining genetic counselling attention needed in adulthood, although several HCS also manifest themselves in childhood, therefore some overlapping between these categories is to be expected. Information on live births and hospital admissions for RGD, and mortality due to HCS within the public system was obtained from the national health information database is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint were not required. In 2019-2020 there were 332 medical geneticists (MGs) in Brazil, 27 more than in 2018 12 , which represents an increase of ~9%. Sixty-four percent of MGs were female ( is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint likely to have attended a public medical school than MGs registered in the other regions, particularly the Southeast (Supplementary Table 5 Table 7) . Two-hundred and eight MGs (out of the 252 for whom we had data) had done a residency in Medical Genetics. The second most popular residency program was Paediatrics, which was undertaken by 62 MGs. Eighty-three MGs (25%) had a degree in Paediatrics as well 8 . is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint Table 6 Table 6 ). Additionally, we checked whether recently described clusters of genetic diseases 10 receive proper MG attention. From the list compiled by the INAGEMP, we assessed clusters that were assigned to a municipality, ignoring those that exist within big cities or across large regions. Despite reporting RGD hospital admissions in the thousands, most population isolates did not have a registered MG (Supplementary Table 8 ). Thirteen of the 14 available MGs were registered in the municipality of Ribeirão Preto (SP), which, with ~700,000 inhabitants, is considerably larger than the rest. The municipality of União dos Palmares, representative of a region of high isonymy, also lacked a MG. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint each year 13 . The programs last 3 years and are usually offered in the Southeast (n=6), South (n=2), Centre-West (n=1) and Northeast (n=1). b. Other opportunities MG services at facilities run by SUS were available in 10 different types of facility, out of the 24 that reported providing some kind of genetic service, and out of a total of 43 types of SUS facilities. General hospitals furnished 50% or more of these services, followed by specialized hospitals with over 12%. It should be noted that 208 and 211 MGs of the 332 were accounted for in the SUS facility database in 2019 and 2020, respectively (Supplementary Table 9 and Figure 1 ). In addition, 88 reference centres for rare diseases, where it is presumed that MGs are practicing, were described in the Many of Us Are Rare and the Ministry of Health websites. These include public (SUS) and private services and handle non-genetic rare diseases as well. As expected, a majority of reference centres are located in the Southeast (n=49), and the region with the lowest number of them is the Centre-West with 4. The state with the most reference centres is RJ with 20 (Supplementary Table 10 ). Considering all information on MGs, SUS facilities with MGs and reference centres together, the number of municipalities served by at least one of these options increases to 111 (2% of all municipalities in the country) (Supplementary Table 11 ). I. Public healthcare system (DataSUS) . CC-BY-NC 4.0 International license It is made available under a perpetuity. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint Table 13 ). . CC-BY-NC 4.0 International license It is made available under a perpetuity. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint Table 12 ). The distribution of deaths followed the pattern of live births and hospital admissions mentioned above, namely, the majority taking place in the Southeast (38.6%) and the lowest proportion in the North (7.7%), but the differences between regions were not as large. The number of deaths due to HCS with respect to the number of MGs across municipalities and states is shown in Supplementary Table 12, Figure 2 and Table 2 . is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint The 38 isolates with a confirmed presence of a genetic disease exhibited over 12,000 hospitalizations and 687 live births with a RGD in the time period of interest (Supplementary Table 8 ). The municipality of União dos Palmares (AL), showing high rates of isonymy, suggestive of endogamic practices 11 , reported 8 RGD live births, 207 RGD hospitalizations, and one HCS death. II. Private healthcare system (D-TISS) In this system we were able to extract data for RGD-related, genetic counselling, and HCS-related appointments. Numbers were substantially lower than in the public system, with 1,792 RGD-related and 721 HCS-related appointments, although appointments for genetic counselling were much higher (n = 28,171) (Supplementary Figure 1) . We could not compare this number to information in DataSUS because the genetic counselling data was incomplete, even though this service is available in the public system. The distribution of these appointments by state with respect to the number of MGs, which was very similar to what was observed in the public system, is shown in Table 3 . The vast majority of all types of appointments (65% or more) took place in the Southeast, surpassing the share of active MGs (57.5%). In contrast, the North had proportionally more MGs (1.5%) than its presumed need based on the percentage of appointments (0.1 to 0.6%). This study aimed to assess the suitability of the existing medical genetics workforce to satisfy the present needs of the population as well as to anticipate future needs for genetic services if PM is to be implemented in Brazil. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint The medical genetics workforce in Brazil is overwhelmingly female, in agreement with the general trend of medical doctors in the country 8 . Remarkably, female MGs are the majority across almost all age categories, including in the group ≥ 60 years old, where a predominance of male doctors is the case for many medical specialties 8 (Table 2) . MGs are present in 67 municipalities (1.2% of all municipalities), where ~28% of the population is based. We determined that overall 30-35% of RGD live births, hospital admissions for RGD, and deaths due to HCS take place in these municipalities. Thus, is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint the deficit of MGs is seemingly not as extensive as it could be. In the same way, several of the municipalities with high numbers of patients and without a registered MG are located in SP state, suggesting that they may be served by MGs who are registered in the big city. Nevertheless, the absence of MGs in four northern states, with a combined population of almost 5 million people and over 10,000 SUS hospital admissions for RGD in the two-year period, is worrisome. We do not know whether there are MGs carrying out patient consultations remotely or MGs that travel to the area periodically, but even so, addressing the situation in these states should be prioritized. With respect to job availability, we reported on the number of MGs already present in different SUS facilities, who comprise approximately two thirds of the active MGs. It is interesting to note that the SUS facilities that deliver the largest number of genetics services are the SADTs, yet the general hospitals are the locales where most MGs work. It is quite clear that the public healthcare system is undertaking a substantial proportion of the tasks of diagnosis, treatment and care of patients with RGD and HCS. However, when it comes to genetic counselling the contribution of private providers appears more significant. Although the available data does not allow us to measure the level of inequality of access of the population to MGs between the public and private subsystems in Brazil, it is known that, in general, people with higher incomes tend to use more specialized medical assistance and those with lower incomes use more generalists and primary care services 14 . Cultural and informational barriers may impact the inequality of access to specialized services, such as those of MGs. In Brazil, access to health services is strongly influenced by the public-private configuration of the health system, social status, income and where people live 15 . is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint services and potentially reduces the waiting time for consultations and exams in medical specialties. The high cost of genetic counselling can make the access be prioritized for those who can afford the expense, either by direct payment (out-ofpocket costs) or through health plans that include these coverages in their contracts. This can detract from the amplification of the offer of MG services in SUS and, with this, hinder collective benefits. As discussed above, the training of MGs in Brazil is an essentially public investment, financed through taxes and contributions from society as a whole. Most MGs graduated from public medical schools, did their medical residency with public grants and practice in SUS hospitals. However, part of this specialized workforce moves to private services that serve a smaller portion of the population, as attested by the present study with respect to the large number of genetic counselling consultations reported in D-TISS, the private healthcare database. Our study has strengths and limitations. The status of medical genetics in Brazil has been examined before from a variety of perspectives 13, [16] [17] [18] , although, as far as we know, this is the first study to include reports of RGD and HCS obtained from open databases in the public and private healthcare systems, in relation to the presence of MGs. The MG demography database was very reliable, since it was created using three other databases that require compulsory registration of medical professionals 8 . Despite using databases of different origins, which painted a similar global picture, we were limited by the utilisation of secondary data that depends on owner organisations for collection and updating. While we tried to access the most complete and informative outcomes, it is likely that even the data included in this study is affected by underreporting and missing observations. Additionally, other potentially . CC-BY-NC 4.0 International license It is made available under a perpetuity. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint interesting outcomes could not be evaluated because they are not recorded in any of the databases searched (or at all). We should also mention that our description of the contemporary Medical Genetics field in Brazil did not consider the provision of genomic services (for example, whole-genome or whole-exome sequencing), which is growing, especially on private practices, or the genomic proficiency of MGs, elements that will play a key role in the successful implementation of PM. f-supplying healthcare facilities that receive more request for genetic services, such as the SADTs, with additional MG support. g-implementing MG telemedicine in order to reach more remote locations. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint h-broadening genetics education in the undergraduate stages of the medical career, so that general practitioners feel more comfortable treating genetic diseases. i-expanding the offer of genetics training courses for health professionals in general, not limited to physicians, accessible throughout the country. j-considering the creation of the genetic counsellor figure, which does not exist in Brazil 13, 19 and does not require a degree in Medicine. And finally, calling for the careful implementation and systematic updating of public and private healthcare databases so that the picture painted by secondary data analyses is more closely related to reality. Although some of these proposals have been made earlier 13, [19] [20] [21] , it is important to reconsider them. In addition, mechanisms are also needed to reduce public-private asymmetries within the health system. The added challenge is to bring MGs closer to the SUS and the health needs of most of the population. In conclusion, we characterized the medical genetics workforce currently active in Brazil, mapped the distribution of genetic diseases as defined by the Ministry of Health, at the municipality level across the country, and uncovered a picture of services in short supply, particularly in the northern regions, that will require serious improvement in the years to come. The country's progression towards PM, even though the advantages of this route require an appropriate debate that escapes the goals of this study 2, 22 , if pursued, should be done by establishing strong foundations that give precedence to the wellbeing of all its inhabitants. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint Table 11 . Municipalities with at least one medical geneticist reported by the medical demography study, one medical geneticist in a SUS facility, or a reference centre for rare diseases. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint . CC-BY-NC 4.0 International license It is made available under a perpetuity. is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; https://doi.org/10.1101/2021.10.14.21265027 doi: medRxiv preprint is the author/funder, who has granted medRxiv a license to display the preprint in (which was not certified by peer review) preprint The copyright holder for this this version posted October 18, 2021. ; Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities Medicina de precisão/medicina personalizada: análise crítica dos movimentos de transformação da biomedicina no início do século XXI Genetics workforce: distribution of genetics services and challenges to health care in California The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature The 2019 US medical genetics workforce: a focus on clinical genetics Profiling recent medical graduates planning to pursue surgery, anesthesia and obstetrics in Brazil Demografía Médica No Brasil Prevalence of congenital anomalies at birth among live births in the state of Maranhão from 2001 to 2016: temporal and spatial analysis Clusters of genetic diseases in Brazil An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast Demografía Médica No Brasil Genetic services and testing in Brazil Inégalités de recours aux soins en Desigualdades geográficas e sociais no acesso aos serviços de saúde no Brasil Perfil clínico-epidemiológico da genética médica no Sistema Único de Saúde: análise do município de São Carlos Da busca pelo diagnóstico às incertezas do tratamento: desafios do cuidado para as doenças genéticas raras no Brasil Ferraz VE de F. Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil Brazilian health-care policy for targeted oncology therapies and companion diagnostic testing Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer Doenças raras, drogas órfãs e as políticas para avaliação e incorporação de tecnologias nos sistemas de saúde. Sociologias We thank Dr. Alex Cassenote, assistant researcher at the Department of Preventive Medicine, Faculty of Medicine, University of São Paulo, for the development of the medical demography database.