Advancements in genomic research have opened new possibilities for personalised medicine, revolutionising the way healthcare is delivered (1). The integration of genomics into clinical practice holds great promise for improving patient outcomes and tailoring treatments to individual genetic profiles (1). In this article, we will explore the role of healthcare professionals in leveraging genomics for personalised medicine and the implications it has for patient care.
Understanding Genomics and Personalized Medicine:
Genomics refers to the study of an individual’s entire set of genes and their interactions (2). Personalised medicine, on the other hand, aims to deliver targeted healthcare based on an individual’s unique genetic characteristics (3). By analysing a patient’s genomic data, healthcare professionals can gain valuable insights into disease susceptibility, drug responses, and treatment options (3).
The Role of Healthcare Professionals in Genomic Medicine:
Healthcare professionals play a crucial role in the integration of genomics into clinical practice. Here are some key responsibilities they undertake:
Genetic Counselling and Patient Education:
Healthcare professionals provide genetic counselling to patients, helping them understand the implications of their genetic test results (4). They guide patients in making informed decisions about their health and assist them in coping with the psychological and emotional aspects of genomic information.
Interpreting Genetic Test Results:
Interpreting complex genomic data requires specialised knowledge (5). Healthcare professionals, such as geneticists and genetic counsellors, possess the expertise to analyse and explain the results of genetic tests accurately (5). They translate genetic information into actionable insights for personalised treatment plans.
Incorporating Genetic Information into Treatment Decisions:
With the availability of genomic data, healthcare professionals can tailor treatment approaches to individual patients (6). They consider genetic variations that may impact drug responses, disease progression, and risk factors when formulating treatment plans. This personalised approach enhances treatment efficacy and minimises adverse reactions. Rare diseases will benefit the most from using genomics in the treatment modalities. There is evidence that (14) loss-of-function variants in the Erythroblast Transformation Specific (ETS)-family transcription factor encoding gene ERG lead to primary lymphoedema, (14) truncating variants in the last exon of transforming growth factor-β regulator PMEPA1 result in Loeys–Dietz syndrome and (14) loss-of-function variants in GPR156 give rise to recessive congenital hearing impairment.
Collaborating with Genetic Specialists and Interdisciplinary Teams:
Genomic medicine often necessitates collaboration between healthcare professionals from different disciplines (7). Healthcare providers, genetic counsellors, geneticists, pharmacists, and researchers work together to ensure comprehensive patient care (7). This interdisciplinary collaboration ensures that genomic insights are effectively integrated into clinical practice.
Benefits and Challenges of Integrating Genomics in Clinical Practice:
The integration of genomics into clinical practice offers several benefits for patients and healthcare professionals alike:
More Accurate Diagnoses and Treatment Plans:
Genomic information allows for precise diagnoses, leading to targeted treatment strategies (1). It enables healthcare professionals to identify genetic markers associated with specific diseases, enabling earlier detection and intervention.
Improved Prediction and Prevention of Diseases:
Genomics provides insights into an individual’s predisposition to certain diseases (1). By identifying genetic risk factors, healthcare professionals can implement proactive measures for disease prevention and develop personalised screening programs.
Enhanced Medication Efficacy and Safety:
Genomic information can guide medication selection and dosage adjustments based on an individual’s genetic profile (1). This helps optimise treatment outcomes, minimise adverse drug reactions, and reduce the trial-and-error approach to finding effective therapies.
While the integration of genomics into clinical practice offers immense potential, it also presents certain challenges:
Ethical Considerations and Patient Privacy:
Genetic testing raises ethical concerns regarding the privacy and use of sensitive genetic information (8). Healthcare professionals must ensure that patients’ confidentiality is protected and that proper consent is obtained for genetic testing and data sharing.
Integration of Genomic Data into Electronic Health Records:
Effectively integrating genomic data into electronic health records presents technical and logistical challenges (9). Healthcare professionals need seamless access to genomic information within their existing healthcare systems to facilitate data-driven decision-making.
Ensuring Equal Access and Affordability of Genomic Testing:
Wide-scale adoption of genomic medicine requires addressing issues of accessibility and affordability (10). Numerous problems with healthcare access already exist without the inclusion of genetics. Presently, disparities in access to health care for women aged 15 to 49 are typical across Asia-Pacific nations, whether as a result of cost or proximity to medical facilities (17).
Strategies to lessen unmet needs must address both financial and non-financial access barriers, especially for the less fortunate (16). To ensure that all patients have an equal chance to benefit from the developments in personalised medicine, healthcare professionals must fight for fair access to genomic testing.
Training and Education:
To effectively integrate genomics into clinical practice, healthcare professionals require specialised training and ongoing education (11). Continuous professional development programs and workshops are essential to stay updated with the latest genomic research, technologies, and ethical considerations. By investing in education, healthcare professionals can confidently navigate the complexities of genomic medicine and provide optimal care to their patients. A study evaluated the attitudes of American public health educators towards genomic skills, their awareness of efforts in the field of health promotion to promote/incorporate genomics, and their understanding of both basic and applied genomics (15). The majority of participants (88.6%) agreed or strongly agreed with the proposed genetic skills for the public health education workforce. The ability “to conduct a needs assessment for community-based genomic education programmes” received the highest frequency of agreement (90.8%), while “advocating for community-based genomic education programmes” got the lowest support (86.6%) (15).
Less than half of the sample (49.3%) valued the practice of the specified competencies, despite the fact that the majority of respondents agreed with them. Incorporating genomic elements into community-based genetic education programmes is a worthwhile effort, according to 52.3% of respondents and 45.5% of agency staff, administrators, volunteers, community groups, and other interested persons (15).
Genomic Research and Collaboration:
Healthcare professionals play a vital role in promoting and participating in genomic research (12). By engaging in collaborative studies, they contribute to expanding the knowledge base and improving the understanding of genetic factors underlying various diseases. Active involvement in research also allows healthcare professionals to stay at the forefront of advancements in genomics and apply cutting-edge findings to clinical practice.
Ethical and Legal Considerations:
The integration of genomics into clinical practice raises important ethical and legal considerations (8). Healthcare professionals must adhere to strict guidelines to ensure patient privacy, informed consent, and responsible use of genomic information. They have a responsibility to communicate the benefits, limitations, and potential risks of genomic testing to patients, empowering them to make informed decisions about their healthcare.
Patient Empowerment and Informed Decision-Making:
Healthcare professionals play a crucial role in empowering patients to actively participate in their personalised healthcare journey (13). By explaining the implications of genomic information and involving patients in treatment decisions, healthcare professionals foster a collaborative and patient-centred approach. They help patients understand their genetic risks, potential treatment options, and the importance of proactive disease management.
Conclusion:
The integration of genomics into clinical practice has the potential to revolutionise healthcare by enabling personalised medicine. Healthcare professionals are at the forefront of this transformative shift, playing key roles in genetic counselling, interpretation of genomic data, treatment decision-making, and interdisciplinary collaboration. By embracing genomic medicine, healthcare professionals can deliver more precise and targeted care, improving patient outcomes and shaping the future of healthcare.
Through ongoing education, ethical considerations, and patient empowerment, healthcare professionals can harness the power of genomics to advance personalised medicine and provide the best possible care to their patients. As genomics continues to evolve, the collaboration between healthcare professionals, researchers, and policymakers will be crucial in overcoming challenges and realising the full potential of genomic medicine for the benefit of all individuals.
References
- Oriana Strianese & Francesca Rizzo, July 2020, Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease. Accessed at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397223/
- A Brief Guide to Genomics, National Human Genome Research Institute. Accessed at https://www.genome.gov/about-genomics/fact-sheets/A-Brief-Guide-to-Genomics
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- Genetic Alliance; July 2009, Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Accessed at https://www.ncbi.nlm.nih.gov/books/NBK115552/
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- Abel N Kho & Luke V Rasmussen, October 2013, Practical challenges in integrating genomic data into the electronic health record. Accessed at https://pubmed.ncbi.nlm.nih.gov/24071798/
- Germán Andrés Alarcón Garavito &Thomas Moniz, December 2022, European Journal of Human Genetics, The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review. Accessed at https://www.nature.com/articles/s41431-022-01259-8
- Ingrid Slade & Deepak N Subramanian, August 2016, Genomics education for medical professionals – the current UK landscape. Accessed at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280204/
- Kathleen A. Calzone & Ann Cashion, January 2010, Nurses Transforming Health Care Using Genetics and Genomics. Accessed at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835985/
- Jie Chen & C. Daniel Mullins, February 2016, Personalized Strategies to Activate and Empower Patients in Health Care and Reduce Health Disparities. Accessed at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681678/
- Daniel Greene & Genomics England Research Consortium, March 2023, Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Accessed at https://www.nature.com/articles/s41591-023-02211-z
- Lei-Shih Chen & Patricia Goodson, August 2007, Public Health Genomics knowledge and attitudes: A survey of public health educators in the United States. Accessed at https://www.nature.com/articles/gim200777
- OECD (2019), Health for Everyone?: Social Inequalities in Health and Health Systems, OECD Health Policy Studies, OECD Publishing, Paris, https://doi.org/10.1787/3c8385d0-en.
- Thummapol, O., T. Park and S. Barton (2018), “Exploring health services accessibility by indigenous women in Asia and identifying actions to improve it: a scoping review”, Ethnicity & Health, Vol. 25/7, pp. 940-959, https://doi.org/10.1080/13557858.2018.1470607.
