Integration of Genomics in Nursing Practice in Brazil

11 Jan 2023
Erika Santos, RN, PhD

1. Nurse’s career in Brazil

1) Nurse: undergraduate 4 years
2) Nurse specialist: postgraduate diploma or Portfolio evaluation and test offered by
a society of experts
3) Academic career (Master, Doctoral degree): Graduate programs, Master’s and
PhD programs offered by public and private organizations

2. National Curricular Guidelines for Nursing

Nursing Curriculum
1) Nursing Care
2) Physiology, Pharmacology, Pathology, Cellular and Molecular Biology, Nutrition,
Public Health and Ecology
3) Anthropology, Philosophy, Sociology, Psychology, Communication and Education

There is no direct mention of genetics in the guidelines. It may be offered in the

context of molecular biology.

3. Nurses in Genetics in Brazil: Historical Perspective

1) 1985: Registration of the first nurse who works with genetics and genomics in
Brazil
2) 1988: International Society of Nurses in Genetics (ISONG)
3) 2001: Nurses joined oncogenetic departments
4) 2001: COREN-SP (Conselho Regional de Enfermagem de São Paulo) has
published a resolution (Sao Paulo State) that recognizes the role of nurses in
genetic counselling
5) 2014: The National Federal Council of Nursing published a resolution (No.
Conselho Federal de Enfermagem (COFEN) 468/2014) recognizing nurses’ role in
genetic counselling.

4. Nurse’s role in Genetic Counselling (No. COFEN 468/2014)

Two levels of nursing practice
1) Non-specialist: Empathic Relationships; Identifying at-risk individuals; Educate
patients about the importance of genetic counselling; Patient follow-up; Assess
understanding regarding genetic counselling.
2) Specialist: Collecting genetic data; Interpreting genetic risk; Evaluating responses
to genetic counselling; Educate.
There are a few positions most specific to nurses in genetic counselling in Brazil.
Most of dispositions are available in private institutions. Maybe due to the payment
model for health services in Brazil.

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5. Genetics and Genomics as a Nursing Specialty
1) 2017: Sociedade Brasileira de Enfermagem em Genética e Genômica (SBEGG)’S
Foundation (in English: Brazilian Society of Nursing in Genetics and Genomics)
2) 2018: The Federal Council of Nursing recognizes Genetics and Genomics as
Specialty (No. COFEN 570/2018)
3) 2022: SBEGG: Portfolio analysis from 10 nurses

6. National program of Genomics and Precision Health

Released in 2020 by Ministry of Health.
1) Purpose: raising awareness for precision health; Promoting the development of
health and genetic products industry; Integrating genomics into clinical practice
2) Problems identified in the integration of genetics and genomics into health
care
a) Scarcity of large-scale genomic studies in a multiethnic population
b) Lack of incentive for scientific development
c) Dependence on the development of diagnostic and therapeutic products
d) Productive vulnerability in the manufacture of diagnostic and therapeutic
products
e) Health care spending with non-preventive interventions
f) High expenditures for the health care system in relation to the population’s
access to therapeutic products (e.g., call and gene therapies)
g) Shortage of health care workforce qualified in genomics
3) Goals of National Program of Genomics and Precision Health
a) Establish the reference genome of the Brazilian population (e.g., Brazilians,
European, African, and Native American ancestry)
b) Establish a national genomic and clinical data bank
c) Promote the increase of scientific capacity and human resources in Precision
Health
d) Promote the national industry
e) Train the national care system (SUS) workforce in Precision Health
4) Training the National Health Care System Workforce
Initiatives
a) Curriculum guidelines for multi-professional fellowship program in genetics
and genomics (dependent on the public budget, applying)
b) Curriculum guidelines for multi-professional fellowship program in genetic
counseling (dependent on the public budget, applying)
5) PROADI-SUS (not so dependent on the public budget)
a) PROADI-SUS is called Supporting program for Institutional Development of
the National Health System.
b) Source of resources: The projects are managed with funds from the six
participating hospitals themselves that would be used for tax payments
c) Project Elaboration: Participating hospitals, Ministry of Health CONASS,
CONASEMS, class entities and other interested parties

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7. Project: Mapa genoma Brasil (Brazilian genome map)
Big name: Precision Health: correlation between genomic, epidemiological,
clinical and familial profiles in cancer and cardiovascular diseases
1) Goals
a) Precision Health in cardiovascular disease and cancer
b) Continuing education for doctors, nurses and community health agents in
genetics and genomics.
c) Structuring of a genomic, clinical, epidemiological and family database of
patients with breast, prostate and colorectal cancer
d) Registering families of individuals with cardiovascular disease and cancer
e) Structuring processes for material collection
f) Structuring processes for analysis and interpretation of genomic data
g) Establishment of risk scores and genomic, epidemiological, ethnic, clinical
and familial correlation with the aim of establishing guidelines for primary
and secondary prevention.
2) Four sub-projects:
Oncology, Cardiogenetics, Population-based cardiology, Qualification of
health care workers.
Oncology
a) Establishment of a genomic profile of cancer patients and their families;
developing genetic counselling protocols; providing molecular analysis to a
sample of patients; established a database to record clinical and family
history.
b) This project includes patients with breast, prostate and colorectal cancer.
c) Runs in a two-year period, 2022 and 2023,
d) By June 2023, 273 patients will be included. Samples of blood and tissue will
be collected for completely whole genome sequencing.
e) After identifying likely pathogenic variants in patients, and will perform
specific mutation for two family members from patients.
Cardiogenetics
a) Collaboration with the Institute Cardiology, institute for San Paulo University.
b) Analyze samples from patients with cardiovascular diseases.
c) Will perform Exomas (Cardiomyopathy Arrhythmias, Dyslipdemia,
RASopathies, Index cases 1500), genoma (Congenital cardiomyopathy,
Aortopathies, Index cases 700), Multiplex-ligation dependent probe
amplification (MLPA) (Congenital cardiomyopathy, Aortopathies, Index cases
1000) and Sanger (Cardiomyopathy Arrhythmias, Dyslipdemia, RASopathies,
Index cases 3000).
Population-based cardiology project
a) ELSA Project Brasil (2022-2023)
b) The expectation of this project is to create the polygenic risk score for
hypertension and cardiovascular disease.
c) This project will perform more than 3,000 samples, a whole genome
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 sequencing on samples from participants and to the ELSA project.
d) The ELSA is a cohort study includes 50,000 participants, public employees
from six institutions in Brazil.

Qualification of health care workers

a) Develop a course for primary care professionals: focusing on the application
of genetics and genomics and the prevention of cancer and cardiovascular
diseases.
b) Course for doctors and nurses from the participating centers.
c) Implementing digital library with learning objects produced during the
project.
http://repositorio.mapagenomabrasil.com.br/

Process
a) Establish competencies, developing curriculum, production of learning
objects and course implementation.
b) Developed a document with the competencies, in genetics and genomics in
primary care, for physicians, nurses and community health agent. The
community health agents are from this community, from the area that is
being located in the primary care service.
c) Developed the competencies for physicians and nurses that are specialists in
ecology and cardiology; carry out a review of publications and competencies
in genetics and genomics and send a questionnaire to the Ministry of Health
Team to validate competencies.
Curriculum development
1) Genomic in Primary care
2) Genomic data collection and registry: 30 hours, 8 weeks distance learning
3) Genetic Counseling in Oncology and Cardiology: 50 hours, 25 weeks,
distance learning weekly mentorship meetings.

8. Next step
1) Implementation of the course on genetics and genomics for primary care
2) Application of The Genetics and Genomics in Nursing Practice Survey (GGPNS)
and Assessment of Strategic Integration of Genomics Across Nursing (ASIGN):
now translating, English to Portuguese.
3) New PROADI project 2024-2026
a) Genetics and genomics teacher training
b) Establishment of a mentoring program