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February Issue 2018

STRATEGY

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Counseling the Genetics Way

The evolving role of genetic counseling in personalised medicine

By: Aparna Dhar

The successful completion of the Human Genome Project in 2003, resulted in an exponential increase in volume of genetic information linked to human diseases. Development of new technologies, especially next generation sequencing (NGS) has increased the accessibility of genetic information. The wealth of information we've garnered is helping provide opportunities to advance medical care, improve health outcomes and cut costs through more effective management of diseases.
The current buzz word in healthcare is 'personalised medicine'. Personalised medicine essentially works on the assumption that a disease can be caused by multiple factors, where any one factor is neither necessary nor sufficient to cause the disease. It recognises gene x environment, gene x gene and other more complex risk combinations and interactions, making genetics a vital component of personalised medicine. The application of personalised medicine is needed when multiple etiologies cause the same syndrome, when the same syndrome has multiple outcomes and when response to therapies is unpredictable based on the disease signs and symptoms alone.

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With the inclusion of personalised medicine in patient care, it is essential that the positioning of genetic counselors in the delivery system be optimised in assisting a physician's decision to ethically improve care and quality of life for patients with diseases

Understanding the intricacies

Interpretation of this data requires a good understanding of the intricate relationship between genetics, environment and physiology. With the rapid accumulation of new information and its interpretation and application in clinical practice, the understanding of its psychological consequences is also vital in this shift.
If you saw a patient who was under 50 and had breast, colon, or ovarian cancer, what course of action would you recommend? What if the patient was a woman with more than 1 type of cancer, or a man with both colon and bladder cancers? If your response would be to refer those patients for genetic counseling, you would be doing the right thing, according to experts in the field.
Sharing family stories can do more than bring relatives closer together. When the stories are about health, they can help family members make the right medical decisions. Genetic counselors play a key role in helping patients and their families get the care that's right for them.
Genetic counselors are healthcare professionals who have intense training and experience in the psychological implications of genetic testing. Genetic counseling is a communication process. The primary goal of this process is to help individuals, couples and families understand and adapt to medical, psychological, familial, and reproductive implications of the genetic contribution of health conditions. The process of genetic counseling involves interpretation; family and medical history assessment, patient education, and support by non-directive decision facilitation. Genetic counselors are trained to address the physical, mental, social, and emotional impacts of genetic conditions, acting as advocated for their patients. Fears, concerns of patients are addressed and ameliorated in a counseling clinic. Calculating recurrence risks, determining appropriate testing and identifying risk of family members are also skills possessed by a genetic counselor.

Increasing demand for genetic counselors

With the rapid advancements in the scope and cost of genetic testing, there is a demand for genetic counselors. They play a critical role in assisting physicians and patients in the management of chronic complex diseases like, say pancreatitis. Alcohol is an established environmental risk factor for pancreatitis, however, with advancements in genetic research we've learned that the gene CLDN2 plays a key role in increasing the risk for alcohol related pancreatitis. Diseases like inflammatory bowel disease, liver cirrhosis, asthma and chronic renal diseases are other complex diseases where genetic studies assist in providing guidance and better management. In addition to standard patient education by genetic counselors about genes, chromosomes and inheritance, counselors also factor in environmental risks. Like in the case of pancreatitis, smoking and alcohol consumption provides valuable information for treatment options and risks for complications such as diabetes mellitus. Such information results in increased surveillance, treatment, and prevention in at-risk family members.
Genetic counselors also play a key role in hereditary diseases like cystic fibrosis, cancer etc. In the case of hereditary breast and ovarian cancer or lynch syndrome or other hereditary genetic disorder, genetic counselors acquire a family and personal history for a holistic view of the family and pattern of inheritance. Specific criteria's have been established to inform genetic testing for these conditions and genetic counselors are trained to determine the appropriate testing approach. Genetic counselors discuss the test and its implications, review genes/chromosomes and facilitate the testing process. Appropriate testing may involve single gene testing, a panel of genes or site-specific testing when a familial mutation has already been identified. Post testing the genetic counselor reviews the results with the treating physician and patient and coordinate appropriate care.

The non-traditional way

In addition to traditional genetic counseling, genetic counselors are also being used in non- traditional roles. For instance, laboratory genetic counselors facilitate communication between healthcare professionals and the diagnostics laboratory to ensure that genetic testing is used wisely and correctly. With the evolving role, today a genetic counseling session includes natural history of a disease, lifestyle changes, treatment/preventive options rather than just inheritance patterns, risk for family members, and identification of medicine of appropriate testing.
Developments on our understanding of the human genome have pinpointed the importance of common, low risk genetic variants in genetic diseases/syndromes, resulting in high risk combinations, this requiring a shift to a personalised medicine paradigm of disease modeling and treatment simulation. Widespread incorporation of genetic information into the healthcare system requires careful integration of both genetic and environmental risk into care models. Furthermore, gaps still exist in the knowledge and process of delivering new concepts and medical guidance in the context of this risk information. This change in thinking also presents an emergent need for professionals with training in genetics to assist physicians that treat genetic disorders.
Thus, with the inclusion of personalised medicine in patient care, it is essential that the positioning of genetic counselors in the delivery system be optimised in assisting a physician's decision to ethically improve care and quality of life for patients with diseases.


About the author

Aparna Dhar is currently working at Core Diagnostics as the resident Medical Geneticist and GeneticCounselor.
She is a Mayo Clinic College of Medicine and University of Glasgow trained Medical Geneticist and Genetic Counselor. She has gained research experience at the Mayo Clinic, Broad Institute of MIT and Harvard, National Health Services (NHS) Scotland and Harvard Medical Foundation (Dubai) as a research fellow and patient counselor.