General information

Subject type: Optional

Coordinator: Montserrat Lamoglia Puig

Trimester: First term

Credits: 5

Teaching staff: 

Ignacio Blanco Guillermo
Meritxell Puyané Oliva 


Basic skills
  • CB5_That students have developed those learning skills necessary to undertake further studies with a high degree of autonomy.

  • CB2_That students know how to apply their knowledge to their job or vocation in a professional way and have the skills that need to be demonstrated through the elaboration and defense of arguments and the resolution of problems within their area of ​​study

  • CB3_That students have the ability to gather or interpret relevant data (usually within their area of ​​study), to make judgments that include reflection on relevant social, scientific or ethical issues

Specific skills
  • CE1_Know and identify the structure and function of the human body. Understand the molecular and physiological basis of cells and tissues

  • CE7_Know the pathophysiological processes and their manifestations and the risk factors that determine the states of health and disease in the different stages of the life cycle

  • CE8_Identify the psychosocial responses of people to different health situations (in particular, illness and suffering), selecting the appropriate actions to provide help in them. Establish an empathetic and respectful relationship with the patient and family, depending on the person's situation, health problem and stage of development. Use strategies and skills that allow effective communication with patients, families and social groups, as well as the expression of their concerns and interests

  • CE13_Apply the nursing process to provide and guarantee the well-being, quality and safety of the people being cared for

  • CE15_Direct, evaluate and perform comprehensive nursing care, to the individual, the family and the community

General competencies
  • CG3_Know and apply the foundations and theoretical and methodological principles of nursing

  • CG6_Basing nursing interventions on scientific evidence and available media

  • CG9_Foster healthy lifestyles, self-care, supporting the maintenance of preventive and therapeutic behaviors

  • CG11_Establish effective communication with patients, family, social groups and peers and promote health education

  • CG15_Working with the team of professionals as a basic unit in which the professionals and other staff of the healthcare organizations are structured in a unified and multidisciplinary and interdisciplinary way

  • CG1_To be able, in the field of nursing, to give adequate technical and professional attention to the health needs of the people they care for, in accordance with their state of development of the scientific knowledge of each moment and with the levels of quality and safety that are established in the applicable legal and deontological norms

  • CG2_Planning and providing nursing care aimed at individuals, families or groups, oriented to health outcomes, assessing its impact, through clinical practice and care guidelines, which describe the processes by which a patient is diagnosed, treated or treated health problem

  • CG7_Understand without prejudice to people, considering their physical, psychological and social aspects, as autonomous and independent individuals, ensuring respect for their opinions, beliefs and values, guaranteeing the right to privacy, through confidentiality and professional secrecy

  • CG17_Perform nursing care based on comprehensive health care, which involves multiprofessional cooperation, integration of processes and continuity of care


Advances in genetics and the identification of genes responsible for the predisposition to certain diseases has opened up the possibility of identifying families and individuals with a greater chance of suffering from these diseases. By meeting individuals at higher risk of suffering from these diseases, we will be able to implement effective measures for early diagnosis and prevention by rationalizing the cost and reducing the morbidity, physical or mental, of these examinations. Addressing hereditary predisposition from Primary Care is critical to the successful implementation of primary and secondary prevention measures in both patients and their immediate family members.

Genetic counseling is the process of non-directive communication through which individuals and / or families at greater risk of hereditary predisposition receive information about the possibility of presenting or transmitting a disease, of the measures currently available for its prevention and early diagnosis, and the implications of genetic study for both him and other family members.

In the information age, these advances have not been exclusively in the healthcare environment, but rather have quickly transcended into the public light thanks to the media. This has led to a growing social demand for the possibilities of having a genetic predisposition to diseases such as neoplastic and genetic counseling.

The nursing professional is key in translating knowledge in genetics into clinical practice. The identification of the roles to be developed by nursing professionals in the area of ​​genetics and the training of these professionals will ensure adequate assistance.



  • Increase and deepen the knowledge and understanding, practical skills and attitudes of nursing students about genetics, genomics and genetic counseling.
  • Understand the relationship between genetics and health, prevention, detection, diagnosis, prognosis, treatment, and monitoring of treatment effectiveness.



  • Know the different patterns of inheritance and the risk of occurrence and recurrence of genetic diseases and congenital anomalies.
  • Know the population risks for the most prevalent genetic diseases
  • Apply recommendations aimed at promoting healthy lifestyles.
  • Identify the most common hereditary predispositions to cancer
  • Specify the nurse role within the genetic counseling process.
  • Work on the different areas of action of the nurse in genetic counseling.
  • Know how to build a family tree with information on family health history, including three generations, using symbols and standardized terminology.
  • Identify the most common psychoemotional aspects in patients and families with hereditary predisposition: emotional impact, grief, risk perception and decision making.
  • Provide basic tools in addressing these psychoemotional aspects.

Learning outcomes

Regarding the expected learning outcomes, the student at the end of the subject will be able to:

  • ·         Develop a global and integrative vision of the hereditary predisposition to get sick.
  • ·         Establish an empathic and respectful therapeutic relationship with the patient and family.
  • ·         Use strategies and skills that allow effective communication.
  • ·         Select primary and secondary prevention activities appropriate to the level of individual and family risk.
  • ·         Identify the environmental and genetic factors that condition health.
  • ·         Appreciate the sensitivity of genetic information and the need for privacy and confidentiality.
  • ·         Acquire skills to involve patients and their families in identifying the factors that condition their health.
  • ·         Apply the nursing care process from an integrative and holistic care model.
  • ·         Identify prevalent nursing diagnoses and possible nursing interventions in community, home, hospital, and social care settings.
  • ·         Know the strategies of teamwork as well as the specific contribution of nurses in hereditary predisposition.
  • ·         Identify the basic principles of the process of genetic counseling and advice.

Working methodology

Master classes, classes aimed at debate and clarification of contents, reading discussion classes.

Group work for case studies. Work on situations using problem-based learning (PBL). Preparation and presentation of simulated situations. Cooperative learning activities.

Readings of recommended texts, articles, guides, etc. Preparation of the topics for group work and for the presentation of the same. Study of the contents worked on in the subject. Preparation of the evaluation.


  1. Basic concepts of genetics and genomics.
  2. Basic patterns of inheritance and biological variation, both within families and in populations.
  3. Genetic variability and disease. An opportunity for the development of prevention, diagnosis and treatment options.
  4. The importance of family history in assessing disease predisposition.
  5. Interaction of genetic, environmental, and behavioral factors in disease predisposition, disease onset, treatment response, and health maintenance.
  6. Differences between the clinical diagnosis of the disease and the identification of the genetic predisposition to the disease.
  7. Facilitating factors and barriers to the introduction of genetics in health care (education, ethnicity, culture, health-related beliefs, ability to pay, health model, etc.).
  8. Physical and / or psychological benefits, limitations and risks of genetic information of individuals, families and communities.
  9. Ethical, legal and social aspects related to genetic testing and the registration of genetic information.
  10. Role of nursing professionals in the reference to the provision of services or genetics, and in the monitoring of these services.

Learning activities

Plenary sessions



Evaluation system

The evaluation of the generic and specific competences will be carried out continuously with the following activities: attendance and participation in classes and seminars, oral presentation and online questionnaires.

The teacher, if during the follow-up of the students' learning he considered it necessary to carry out a final written exam to assess the competencies, he could do it.

The teacher will report on the mandatory seminars on the first day of class.


Oral Presentation. Qualification criteria


PES discipline





Type of query represented


Query script. Basic elements (clinical, molecular basis, inheritance pattern, risk of recurrence, penetration, expressiveness, reproductive options)


Role of nursing in genetic counseling


Use of language






Group participation




Interview atmosphere and audiovisual support.


Volume and tone



It uses a system of quantitative (from 0 to 10) and qualitative (suspended, approved, notable, excellent, honors) according to RD 1125/2003


Evaluation activity



Written / oral works generated in the seminars

30 %

On-line questionnaires

20 %

Attendance and participation in classes and seminars

20 %

Final Exam

30 %



Essentials of Clinical Genetics in Nursing Practice. Felissa R. Lashley. Editorial Springer Publishing Co Inc. 2006. ISBN-10: 0826102220. ISBN-13: 978-0826102225

A Guide to Genetic Counseling. Wendy R. Uhlmann, Jane L. Schuette, Beverly Yashar. Editorial Wiley-Blackwell (an imprint of John Wiley & Sons Ltd); 2nd Revised edition; 2009. ISBN-10: 0470179651. ISBN-13: 978-0470179659


Genes, Genetics and Genomics, Oh My !. Essential Genetic and Genomic Competencies for All Registered Nurses.

Kirk M, Tonkin E, Skirton H. An iterative consensus-building approach to revising a genetics / genomics competency framework for nurse education in the UK. J Adv Nurs. 2014 Feb; 70 (2): 405-20.

Skirton H, Cordier C, Lambert D, Hosterey Ugander U, Voelckel MA, O'Connor A. A study of the practice of individual genetic counselors and genetic nurses in Europe. J Community Genet. 2013 Jan; 4 (1): 69-75. Sep 28.