Incorporating genomic medicine into primary-level health care for chronic non-communicable diseases in Mexico: A qualitative study

Abstract

Objective:

To analyze the viability of incorporating genomic medicine technology into the process of detecting and diagnosing chronic non-communicable diseases (CNCDs) at primary-care facilities in Mexico, and to discuss its implications for health systems in other countries with similar characteristics.

Material and methods:

We conducted 29 semi-structured interviews with health authorities as well as providers and users of health services in the state of Morelos. We investigated knowledge of genomic technology among interviewees; the accessibility, management, and organization of health services; and CNCDs prevention, control, and care practices.

Results:

The incorporation of genomic medicine technology into the CNCDs primary-care process is viable. However, the following challenges were identified: a lack of knowledge and limited information among interviewees regarding the effectiveness and benefits of genomic medicine technology, coupled with the need to mobilize and reassign trained human resources for drawing, registering, safeguarding, transporting, and controlling the quality of the genetic samples, as well as for the outsourcing of private laboratory services.

Conclusion:

Using genetic information to detect CNCDs at an early stage offers an enormous potential for upgrading CNCDs prevention and control efforts. This, in turn, could translate into more efficient and financially sustainable health systems in Mexico and other low- and middle-income countries.

1 |. INTRODUCTION

The groundbreaking development of the Human Genome Project in the 1990s generated worldwide excitement and interest in the potential to understand the relationship between human genetics and disease pathophysiology. In Mexico, growing interest in this field culminated in the development of the National Institute of Genomic Medicine (INMEGEN), launched in 2004. The aim of this institute was to map the genes comprising the genome of the Mexican population and to understand the genetic mutations underlying susceptibility to specific diseases, such as certain types of cancer, and chronic non-communicable diseases (CNCDs), including diabetes.¹ The findings generated by the INMEGEN were intended to serve as a basis for formulating strategies that would help prevent, diagnose, and treat diseases of this kind.

While INMEGEN is not the only institute focused on genomic medicine research in Mexico, its creation served as a foundation for the development of alliances with teams of researchers in other health and academic institutions. These institutions, which include the ISSSTE’s Regional Hospital Lic. Adolfo López Mateos in Querétaro, the Civil Hospital of Guadalajara, the Center for Genomic Sciences of the National Autonomous University of Mexico, and the Center for Research and Advanced Studies of the National Polytechnic Institute, which have been pioneers in the development of medical applications of genomic medicine in the country and the training of human resources in the area.^2–4

At present, CNCDs are acquiring special interest given their rising prevalence in Latin American countries as a consequence of an aging population and the alarming rise in overweight and obesity.⁵ With 10.4% of the population composed of older adults aged >60 years, Mexico has identified CNCDs as the leading cause of disease, disability, and death in this age group.^6,7 Among OECD countries, Mexico has one of the leading rates of overweight and obesity (33%), far exceeding the OECD average (19.4%). The rate of adult obesity in Mexico (33%) is second only to the United States (38.2% of adults with obesity).⁵ Consequently, Mexico has witnessed a rapid rise in diabetes prevalence among the adult population (15.8%)-more than double the OECD average (7%)⁸ and fifth highest in the world.⁹ The rapidly growing burden of diabetes in Mexico has also imposed an unprecedented economic burden on the Mexican health system. According to estimates for 2015, average annual expenditure reached US$2664.70 per person for the treatment of diabetes with/without complications and US$2688.237 per person for the treatment of arterial hypertension.¹⁰ Given that primary care units have shown poor capacity to diagnose and treat patients, projections for the year 2020 and the following 6 years suggest that Mexico would need to increase its health expenditure by 17% to 26% solely for the management of diabetes and hypertension.^10,11

The Mexican government has implemented various strategies to combat CNCDs with a focus on primary care and prevention. One of the most widespread strategies are the National Agreement for Healthy Nutrition and the National Strategy for the Prevention and Control of Overweight, Obesity and Diabetes,¹² along with constitutional reforms for taxing sugary drinks and improving food labeling.^8,12,13 However, these efforts have proven insufficient, coupled with persistent suboptimal conditions in primary-care services for abating diabetes and other diseases.¹⁴ The Mexican Ministry of Health has declared this problem an epidemiological emergency¹⁵ and has undertaken actions to consolidate universal health coverage (UHC) for core, cost-effective interventions designed to ensure effective management of patients suffering from CNCDs.

In recent decades, genomic medicine research has made important technological strides in identifying genetic predisposition underlying certain diseases. Institutions such as the Salvador Zubiran National Institute of Medical Sciences and Nutrition, the National Institute of Public Health, the ISSSTE’s Genomic Medicine Laboratory in Querétaro, the Department of Molecular Biology in Medicine at the University of Guadalajara, and the Civil Hospital of Guadalajara, have used molecular biology/genomic technologies to decipher the influence of Amerindian-European-African ancestries in the admixed population and to determine the genetic and environmental risk factors that lead to chronic diseases. This represents an important window of opportunity for the Mexican health system to improve its clinical practice, incorporate a more individualized approach to disease management, and thus to achieve a reduction in the costs associated with the complications of these diseases.^16–18 Although genomic medicine has grown in Mexico in recent years,^16–20 research is conducted only in institutions established explicitly for that purpose. Moreover, studies to date have mainly focused on pharmacogenetics and pharmacogenomics, without opening the use of genomics for routine diagnoses of CNCDs and other morbidities. Finally, there is no record of genomic medicine technology having been used in Mexico at the primary-care level.^16,19,20

However, it is important to mention that efforts have been made in the development of human resources in this field. At the Department of Molecular Biology in Medicine in Guadalajara, several proposals have been made to update pre-grade medical curriculums and medical specialists on genomic medicine, as well as to create new clinical practice guidelines considering the genetic background and environmental factors involved in the onset and progression of chronic diseases. There are also several Doctoral programs in Mexico to train human resources in genomic medicine.³

According to the literature, few studies have been conducted on the viability and feasibility of incorporating this type of technology into primary health care in low-and middle income countries.^2,19,21 Based on a qualitative analysis design, this paper aims to analyze the viability of incorporating genomic medicine technology into the process of detecting and diagnosing CNCDs at primary-care facilities in Mexico, and to discuss its implications for health systems in other countries with similar characteristics.

2 |. METHODS

We conducted a qualitative study using social research methods²² to analyze the perceptions and opinions of state-level health authorities in preventive care and of physicians and users at outpatient-care facilities operated by the Ministry of Health in the State of Morelos (SSM), Mexico. Through this methodological approach, we investigated the viability of incorporating genetic screening for the detection of chronic diseases at the primary-care level.

We elaborated a hypothetical model for implementing genetic screening as an additional service at health facilities. The model incorporated the actions required to record, monitor, safeguard, and transport genetic samples for analysis, in addition to delivering results (Figure 1). We assumed that the analysis of the samples was carried out externally by a public or private laboratory, rather than state health laboratories. Based on this model, we identified the key actors that would need to be involved in the regulation, resource management, and service provision for CNCDs detection. These individuals, working at different administrative levels, would also be responsible for incorporating genetic screening procedures into primary-care services. Service users were also regarded as actors since they hold a key role in accepting the technology proposed for implementation.

FIGURE 1.

Model for the incorporation of genetic screening for early diagnosis and detection of CNCDs

Analysis included the following themes: current user accessibility of services and practices for CNCDs prevention and control, knowledge of genomic medicine technology among physicians and health authorities, the willingness of these actors to use the technology, and their expectations regarding its impact. The purpose of exploring these themes was to obtain information on the characteristics of the possible provision of these services at health-care facilities. Finally, we analyzed the viability of incorporating genetic screening as a diagnostic and preventive service at outpatient-care facilities.

We used the definition of viability proposed by Sobrero, F: “the capacity of an investment initiative for being harmoniously assimilated into the environment where the results and impacts of the proposed intervention will take place.”²³ We analyzed the institutional viability and social dimensions of viability. The first concerned the institutional capacity for handling the incorporation of genomic technology at the primary-care level, specifically with regards to the staff involved in regulating, managing, operating, and delivering disease prevention services. Social viability, on the other hand, referred to the willingness of these actors and service users to adopt genomic medicine technology for the prevention and control of CNCDs.²³ Institutional viability was analyzed in terms of resource availability for incorporating and operating the proposed technology, as well as the capacity for mobilizing additional resources and assuming additional functions as required by implementation. Facilitators and barriers of this endeavor were also considered as part of institutional viability. Social viability was analyzed in terms of the willingness of preventive-service physicians and users to employ genetic screening as an option for CNCDs diagnosis and treatment. Table 1 illustrates the relationship between the actors and dimensions analyzed.

TABLE 1.

Qualitative analysis dimensions by type of actor interviewed

Dimensions	Authorities: policy makers	Authorities: resource managers	Physicians in health-care facilities	Patients in health-care facilities
Accessibility of services	No	No	No	Yes
Current practices for CNCD prevention and control	Yes	Yes	Yes	No
Knowledge concerning genetic screening for CNCD detection and diagnosis	Yes	Yes	Yes	Yes
Institutional viability of incorporation	Yes	Yes	Yes	Yes
Social viability of incorporation: attitude toward using genetic screening for diagnosing and treating patients suffering from a CNCD	No	No	Yes	Yes
Impact and expectations regarding the use of genetic screening technology	Yes	Yes	Yes	No

Data were gathered through semi-structured interviews. The health authorities and service providers interviewed were invited to participate in the study through official communication between the National Institute of Public Health (INSP) and their affiliated institutions. The patients interviewed were identified and invited to participate with the support of the directors of the health-care facilities visited. A total of 29 interviews were conducted: four with federal, state, and jurisdictional authorities, 10 with directors of health-care facilities, and 15 with patients (Table 2). Semi-structured interview guides that included themes for each type of actor were elaborated, piloted, and adjusted for implementation. The resulting guides were used during September and October 2017. With an average duration of 60 minutes each, the interviews were conducted during office hours and recorded onto audio files. The information gathered was subsequently organized and analyzed using an analytical matrix.

TABLE 2.

Distribution of interviews by type of informant

Type of informant	Number of interviews conducted
Federal authorities	1
State-level authorities	2
Jurisdictional authorities	2
Directors of health-care facilities	10
Patients	15
Total	29

Following the ethical principles of the Helsinki Declaration for medical research involving human subjects, informed consent from each interviewed participant was obtained after explaining the consent section of the questionnaire.²⁴ Those who agreed to participate were asked for their authorization to tape record their interviews. This study was approved by the Research, Biosafety and Ethics Committees of the National Institute of Public Health in Mexico (ID: 1494/P72-17).

3 |. PRINCIPAL FINDINGS

3.1 |. Current difficulties in detecting and diagnosing CNCDs

According to the testimony of the physicians in charge of health-care facilities, CNCD diagnosis is performed during consultations based on a clinical index of suspicion and risk factor assessment of patients suspected of having a CNCD. Recruitment of these patients is performed at health-care facilities through a series of questions aimed at determining their predisposition to developing CNCDs. Questions relate to their family histories, personal medical history, and the presence of relevant risk factors and symptomatology (eg, dyslipidemia, obesity, exhaustion, headaches, and alterations in blood pressure or glucose levels). Additionally, anthropometric measurements are obtained (height, weight, and body mass index). Community outreach, such as “health fairs,” are also utilized to identify service-users who might be experiencing a CNCD.

For diagnosing metabolic syndrome and type-2 diabetes mellitus, physicians indicated that they normally asked patients to bring laboratory results for the following tests: fasting glucose, glycosylated hemoglobin, blood chemistry, blood count, urinalysis, and lipid profile. They stated that diagnoses were established in only two or three visits but conveying the results to patients sometimes takes as long as 1 to 4 weeks, depending on sample processing times at the laboratories. The principal difficulty reported by all physicians interviewed concerned processing. Most physicians indicated that the saturation of state laboratory services caused by high demand led to delays in the delivery of testing results. One physician reported that the lack of adherence to health-care recommendations on the part of patients posed a recurrent difficulty. In this regard, several informants declared that many patients did not return after their initial consultation. Some physicians attributed this behavior to lack of patient engagement with their own health or to their fear of facing the diagnosis of a chronic disease. Other informants blamed the expenses that patients incur when obtaining test results, namely the cost of transportation to state laboratories or the cost of private diagnostic services.

3.2 |. Knowledge and opinions of genetic screening for CNCDs detection and diagnosis

None of the informants interviewed were acquainted with genetic screening practices. Overall, state-level, and jurisdictional health authorities reported having no knowledge of these practices. During interviews, several health officials commented that they were simply aware of “genetics” projects in Mexico and other countries, but none had heard about genetic screening tests or knew how they were performed. At health-care facilities, neither physicians nor patients were aware of genetic screening technology.

However, despite their lack of knowledge, once provided with an explanation of how testing was performed and the results it could offer, the majority of interviewees -particularly the jurisdictional and state-level authorities as well as the physicians at health-care facilities- expressed a positive and enthusiastic opinion of genomic screening. Among the 15 patients interviewed, only one stated that he would be wary of this type of technology and unwilling to undergo testing, while two others expressed uncertainty in their answers.

The state-level and jurisdictional authorities believed that genetic screening could be of value in detecting CNCDs early on, although one responded with caution, emphasizing the need for evidence before giving an informed opinion: “[…] We need more information, scientific evidence, and to learn from the experience of other countries … It depends on the results obtained. If good results are demonstrated, then it could be useful […].” (Health authority, SSM).

When asked about the target population for genetic testing, interviewee responses varied widely. Most authorities and physicians noted that this technology would be most useful within the adolescent population, as it would offer an important window of opportunity for prevention. One interviewee indicated that the core population should be limited to adults who exhibit at least one CNCD risk factor and are engaged in “healthy environment” strategies in which health-care personnel perform monitoring regularly.

4 |. INSTITUTIONAL VIABILITY OF INCORPORATING GENETIC SCREENING FOR THE TIMELY DETECTION AND DIAGNOSIS OF CNCDS

4.1 |. Sufficient resources

The state and jurisdictional authorities interviewed were welcoming to this technology but expressed concern regarding the adequacy of resources for incorporating genetic screening in SSM outpatient-care facilities. They affirmed that, although personnel were motivated and willing to receive training, human resource capacity in some facilities was limited and new staff would need to be hired given the size of the population they would be attempting to serve. “[…] Staff time in health centers is limited because of the high demand and the need to fill out so many forms. They have no additional time to dedicate to new activities […].” (Jurisdictional health authority, SSM).

In carefully analyzing the adequate availability of other resources, these authorities recognized the need to mobilize financial resources to cover the costs of incorporating genetic screening technology at SSM primary-care facilities: “[…] Regarding the financial aspects of incorporating this technology],the human resource capacity required to carry out genetic testing can be met by existing personnel […].” [State-level authority, SSM].

Most of the directors of health-care facilities felt that the conditions were already optimal for incorporating genomic technology. Specifically, they noted sufficient infrastructure and personnel motivated to use the new technology. These respondents agreed that they would have no problem implementing genetic screening if supplies and financial resources were provided by the federal authorities.

4.2 |. Resource mobilization capacity for the incorporation of genomic technology

The responses from interviewees at the state and jurisdictional levels were heterogeneous with respect to the types of resources needed to incorporate the practice of genetic screening into health-care facilities. Some considered it necessary to mobilize only supplies and financial resources, as health-care facilities already possess adequate infrastructure and sufficient human resources to develop the activities required for genetic screening. Others stated that, since existing staff are already overwhelmed with day-to-day tasks, it would be necessary to hire additional personnel to carry out the responsibilities encompassed in the logistical aspects of genetic screening, such as the collection of genetic samples. They also considered it important to mobilize material resources to ensure the availability of supplies for taking and safeguarding the samples. Finally, they noted that resources would be required for transporting the samples to laboratories for analysis or for contracting with private laboratories if public facilities lacked this capacity.

4.3 |. Possible additional functions that should be adopted by SSM facilities as part of the incorporation of genomic technology

The state and jurisdictional authorities interviewed considered that some departments at different levels would need to take on additional functions and activities as part of the process of incorporating genetic screening in outpatient-care facilities. At the state level, these functions and activities concerned regulations governing the drawing of samples and administrative control of related activities. The workload at jurisdictional offices would increase with patient follow-up, disease detection and assuring quality control of the samples: “[…] It is necessary to verify that the sample was taken correctly so that transporting it to the laboratory is worthwhile […].” (Health authority interviewed at an SSM jurisdictional office).

It was also noted that the health promotion teams in health jurisdictions would need to assume new responsibilities, such as educating the public about the benefits of the new technology. The authorities interviewed stated that physicians and nurses at the health-care facilities would have to take on new responsibilities in performing the screening tests and recording their results, as well as in providing patient follow-up. They also pointed out that the amount of additional work would depend on the population selected for screening.

4.4 |. Opinions regarding barriers and facilitators

When elements that would facilitate the incorporation of the new technology for the timely detection of CNCDs were discussed, state and jurisdictional authorities indicated that decision makers at several levels within the SSM had expressed an interest in updating their skills and incorporating new technologies. They also believed that medical staff could be sensitized to the long-term cost-benefit advantages and positive results of implementing genomic technology. However, they recognized that having sufficient supplies was crucial for ensuring successful implementation. The directors of health-care facilities identified several elements that could facilitate the incorporation of genomic technology: adequate infrastructure, the enthusiastic participation of younger staff members, including physicians and nurses, and their willingness to receive training and expand their knowledge. This would be particularly important in areas with a high demand for health services.

Several barriers to implementation were identified; the most important were lack of knowledge and fear of illness, as well as a certain degree of distrust toward medical staff at the patient level. Additional barriers included the heavy workload at health-care facilities -mostly on nurses- and the lack of access to Internet at these facilities. Online resources were considered essential for updating and exchanging information with the federal authorities in the fastest and most efficient way possible. Finally, the following were cited as obstacles to implementation: resistance on the part of physicians and nurses as a result of their workloads, lack of knowledge, the tendency of men to avoid doctor’s appointments and insufficient resources to cover the cost of transporting the samples.

4.5 |. Attitude of health-care providers and users toward genetic screening for the diagnosis and treatment of CNCDs

All of the physicians interviewed confirmed their willingness to utilize genetic screening for the timely detection of CNCDs. However, several felt that prior approval from the authorities was crucial, as was considering the additional time required for drawing samples. One director of a health-care facility stated that he/she would use the technology guardedly: “[…] I would use it with reservations because the paperwork involved would consume a lot of time, which could be used instead for clinic visits. In addition, we would need to have sufficient supplies to meet the objectives […].” (Director of a health-care facility).

Although the users of health services interviewed stated that they lacked knowledge concerning genetic screening tests, after the testing characteristics and benefits were explained to them, the great majority said they would like this service to be available at their health-care facilities and that they would be willing to undergo the test.

5 |. IMPACT AND EXPECTATIONS OF USE

5.1 |. Opinions regarding the impact of incorporating genomic screening technology

State and jurisdictional authorities as well as physicians at health-care facilities felt that implementing genetic screening at the primary-care level would help improve the process of providing patient care. The following were among the reasons mentioned: diagnoses of CNCDs would be more precise and timely, allowing for more effective metabolic control and prevention of complications, which could lead to greater patient trust toward medical personnel. Some SSM authorities expressed the opinion that the success of genetic screening for the prevention and control of CNCDs would depend on the age of the target population: “[…] For adolescents and children, the impact would be considerable. [Detection of CNCDs] during adulthood would not have as much impact […].” (SSM authority).

The directors of health-care facilities considered that implementing genetic technology could contribute to improving the quality of care because it would make it possible to anticipate the development of diseases, increase the timeliness of treatment, and inspire greater patient confidence toward physicians: “[…] Once you tell patients that they have a predisposition for an illness and explain this to them, they “change the chip’ and begin to take care of themselves and make changes in their lifestyles […]” (Director of a health-care facility). This patient-led behavioral change reflects their insight into an internalized heightened risk of illness that they could avoid by following the recommendations outlined by their medical provider. The interviewees also felt that this type of technology could lead to improved health outcomes for patients being treated for CNCDs by avoiding and more effectively managing any resulting complications. Additionally, it could also serve to enhance disease prevention, encourage healthier lifestyles, and improve patient quality of life.

6 |. DISCUSSION

The favorable evidence for implementing genomic technology at the primary-care level to improve risk prediction, diagnosis, treatment, and prognosis for those having CNCDs suggests that it is possible to employ this technology routinely in primary-care facilities throughout the Mexican healthcare system. However, there are important challenges to integrating genetic services into the existing structure of health-service delivery. The results of this study highlight some elements that must be considered in the incorporation of genomic technology at the primary-care level for CNCDs from the perspective of health-service authorities and providers.

When considering prior studies on the incorporation of genomic medicine into health policies and practices, the effective implementation of genomic medicine into primary care in Mexico would require a joint effort between educational institutions, governmental authorities, and public health professionals. The need for collaborative work to develop plans and guidelines as a result of interprofessional thinking could improve the likelihood of achieving the goal of translating genomic medicine into better health policies, as evidenced by other countries and regions.²⁵

One issue that must be addressed is the capacity of physicians to use genomic screening technology. Although this group displays considerable enthusiasm and willingness to implement this technology, lack of knowledge and limited information on genomic procedures are also apparent, as indicated in other studies.²⁶

It is important to stress that the incorporation of genomic screening technology would require developing a curricular infrastructure composed of training and refresher courses for physicians, nurses, and other medical staff. This curriculum would focus on the performance, reading, and interpretation of the tests, as well as on issues of confidentiality and privacy. Diverse health personnel, such as primary-care providers, should also receive training on these and additional issues, including evidence of the efficacy and cost-effectiveness of genomic technology with respect to traditional preventive, diagnostic, and treatment procedures.

Resource management and the effectiveness, timeliness, and sustainability of operational processes encompassed in the implementation of genomic screening technology are other important issues that must be examined. It is necessary to consider the mobilization and reorganization of human resources trained to collect, record, safeguard and provide quality control of the samples. Additionally, since public laboratories lack the technology to analyze genomic samples, resources for transporting the samples as well as for contracting with private or other public laboratories as the ones in INMEGEN, the ISSSTE’s Genomic Medicine Laboratory in Querétaro, the Civil Hospital of Guadalajara, should be explored. Similarly, efficient management procedures for keeping track of samples, as well as for ensuring their delivery, must be considered. Moreover, the generation, management, and administration of statistical data derived from the samples and their results is another important aspect of effective implementation. Finally, managerial elements required to facilitate operational processes and render them efficient as well as financially sustainable may be developed. If these elements are not incorporated into resource management, implementation of this technology could impair the effectiveness of CNCD prevention measures.

Efforts to incorporate genomic screening technology at the primary-care level must be accompanied by social communication campaigns to educate the public about the uses and advantages of this technology in the prevention and timely diagnosis of disease.

The use of genetic information in the early detection of CNCDs could help to establish the number of necessary consultations and samples, as well as the amount of effort required from patients to have samples taken outside of the doctor’s office. The ability to predict risk well in advance is an important advantage of genetic screening since it may lead to early disease prevention, treatment cost-reduction, and most importantly, prevention of complications.

The scheme for incorporating genetic screening into preventive care may have a substantial impact by motivating patients to adopt a more positive attitude toward healthy behaviors and disease prevention. However, there is currently no conclusive scientific evidence on the effect that being aware of a genetic predisposition has on the attitude of patients toward preventive care. Future studies are needed to better understand the relationship between awareness of a genetic predisposition and consequent change in behavior.

Our study has several limitations. First, the study was conducted in a single state in Mexico and, hence, our findings cannot be generalized to other contexts. Second, although we collect testimonies from an academic and institutional authority in the field of genomic medicine and from providers and managers of first-level health care services, future studies will require considering incorporating testimonies from other key informants, such as academics or researchers in the field. Finally, the qualitative approach and data collection strategy used may have led to bias in the observations of the field staff. Additional data source triangulation would have yielded greater rigor to our analysis.

In sum, the lack of knowledge and information on genetic screening technology among physicians in health-care facilities represented a limitation of this study. As such, the results presented in this study are based on the opinions of health authorities and the physicians themselves regarding a hypothetical implementation of a technology unknown to them. However, as demonstrated in the literature, unfamiliarity with genetic screening also exists in other low- and middle-income countries.