Introduction: 

Over the last decade, there has been exponential growth in the field of genetics in India. Genetic testing and its awareness has moved from bench to bedside. Availability of genetic testing for various conditions have increased with the increase in new diagnosis and research in genetics. It is also available to a large population now. 

With the rise of a new era of genomics, all stakeholders including the medical fraternity, policy makers, and the government are concerned about standardising that to whom and when the test is ordered, how it is implemented, interpreted, as well as the outcomes of the results. Here we present a case that highlights the ethical, legal, and social issues in genetic counseling.

Reason for referral

A 28 year-old-male presented along with his father to attend the session for  genetic counselling. His would-be wife’s (fiancé) had a strong family history of Stargardt Disease. A rare genetic eye disease that happens when fatty material builds up on the macula causing vision loss. His fiance’s father and paternal uncle had complete vision loss at the age of 40s and younger brother had blurry vision starting at the age of early 20s. His fiance is currently unaffected. Their main concern was if the girl would develop the symptoms related to Stargardt disease.

Challenges during the session:

The consultands were continuously requesting the counsellor to directly perform the genetic testing by any means on the would-be daughter-in-law who is currently asymptomatic. She was not a part of this session hence did not consent to testing and her concerns, willingness, and requirements were not addressed in this session.

Ethical and Psychosocial Issues: 

Principles of genetic counselling are based on autonomy, confidentiality, privacy, and equity. As per the law, it is one’s personal choice to get the genetic testing done or not, if the patient is symptomatic. But in this case, the consultands refused to get testing done on the would-be daughter-in-law’s father, rather they were interested in getting the would-be daughter-in-law to undergo testing.

Genetic Counselling:

Major ethical principles that govern genetic counselors are respect for patient autonomy, non-maleficence, and beneficence. Client’s autonomy refers to their right to make his/ her own medical decision without considering the value judgment of others. As per ACMG guidelines, the testing on the affected/ concerned person is recommended. 

Recommendations: 

• The counsellor suggested genetic testing for either her brother or father as no genetic workup was initially done and they were not carrying their medical and clinical documents.
• The counsellor requested them for his fiancé to be a part of the pretest session along with the would-be daughter-in-law’s father to discuss the risks, benefits, and limitations of the testing.

Conclusion:

The role of genetic counselors is to provide unbiased information and to facilitate informed decision making, while adhering to the ethics of genetic counseling. Genetic information is private, crucial, and confidential, which could be misused at times, hence it is always recommended that the information will only be delivered to the concerned individual (18 years & above) or to their parents. 

Highlights:

• Testing the affected individual.
• Consent of the person getting tested.
• The person getting tested and close family members should be present during the GC session

Now the question arises should people be allowed to choose or refuse the test, or should it be mandatory, or should people take the charge for ordering the genetic test on someone else’s behalf? Should people be able to control access to the results of their tests? If test results are released to third parties such as insurers, relatives, etc., what protections should be in place to ensure that people are not treated unfairly because of their genotype?