Skip to main content

Table 4 Core curriculum for non-physicians working in genetic services, identified through the Delphi process

From: Core competencies in genetics for healthcare professionals: results from a literature review and a Delphi method

Knowledge

1. Knowledge of the structure and function of nuclear DNA, genes and chromosomes, their organization into the genome, their replication and transmission through mitosis and meiosis

2. Knowledge of the structure and regulation of protein-coding genes, their transcription and translation, RNA construction, protein synthesis

3. Knowledge of the structure, function and transmission of mitochondrial DNA

4. Knowledge of the process of DNA mutations (de novo, hereditary); knowledge of the role of these mutations as physiological or pathological events (cancer, multifactorial diseases, monogenic diseases)

5. Understanding the difference between clinical diagnosis of disease and genetic predisposition to disease. Knowledge of the different types of genetic tests (diagnostic, predictive, test for carriers)

6. Knowledge of transmission of hereditary diseases (autosomal dominant/recessive, X-linked, mitochondrial, chromosomal, multifactorial)

7. Knowledge of genotype-phenotype correlations; understanding of how gene variations can influence disease presentation, its severity, and clinical manifestation (anticipation, incomplete penetrance, variable expressivity)

8. Knowledge of the most frequent genetic variants in your professional specialty; knowledge of the clinical features and therapeutic response associated with the different variants

9. Basic knowledge of the research approaches used to study genomic variants and their correlation with clinical data

10. Understanding of the importance of the three-generation family history in assessing predisposition to disease

11. Knowledge of the role of genetic factors in disease prevention

12. Understanding of the role of behavioural, social, and environmental factors that modify or influence genetics in the manifestation of complex diseases

13. Knowledge of the organization of genetic services

14. Knowledge of the potential physical and/or psychosocial benefits and risks of genetic information for individuals in the context of the family and community, here included also the possibility of preventive measures such as reproductive options for mutation carriers

15. Knowledge of the genetic approaches to treatment (including pharmacogenomics and gene therapy)

16. Knowledge of the indications for genetic testing and referral to genetic specialists

17. Knowledge of the principal methodologies for genetic sampling, laboratory techniques with their pros and cons, and knowledge of the terminology used in lab reports

18. Knowledge of ethical, legal, and social issues related to genetic testing and information recording

19. Knowledge of Direct-To-Consumer genetic and genomic tests, possible results and potential risks

20. Function of regulatory factors and epigenetic mechanisms in the regulation of protein-coding genes; role of genetic expression’s regulation in physiological functions and diseases

21. Methodologies for evaluation of genetic/genomic applications, in terms of effectiveness (analytical validity, clinical validity, clinical utility), cost-effectiveness, and Health Technology Assessment

Attitudes

1. Awareness of the sensitivity of genetic information, and the need for privacy and confidentiality while delivering genetic education and counselling

2. Awareness of the importance of working in a multi-professional team (including the family physician) in evaluation, diagnosis, and treatment of patients tested and referred to genetic consultation

3. Awareness of the ethical, social, cultural, religious, and ethnic issues that may interfere with care; awareness of the importance of an accurate communication, without coercion or personal bias, and appropriate to the culture, knowledge, and language level of the patient

Abilities

1. Ability to gather genetic family history information (including an appropriate multi-generational family history)

2. Ability to apply the most recent national and international guidelines to manage patients with genetic conditions

3. Ability to utilize effectively informatic technologies to perform counselling

4. Ability to understand genetic test results and their clinical implications

5. Ability to refer the patient to the appropriate experts in genetics and to work in team

6. Ability to communicate with patients regarding their genetic condition and its implications

7. Ability to explain basic concepts about probability, disease susceptibility, and the influence of genetic factors on maintenance of health and development of disease

8. Ability to educate patients about the range of emotions they and/or their family members may experience as a result of receiving genetic information; being able to refer patients to appropriate support groups

9. Ability to safeguard the privacy and confidentiality of the genetic information of patients

10. Ability to inform patients of potential limitations of maintaining privacy and confidentiality of genetic information, with an appropriate informed consent process

11. Ability to perform a reproductive counselling

12. Ability to transfer genetic competencies to other health professionals and/or facilitate their education in this field