Genetic Tests and Clinical Practice: A View from Pakistan

A group of Karachi clinicians meet periodically to discuss issues related to healthcare. In a recent meeting, a troubled physician presented the case of a two year old child with deranged kidney functions seen in the clinic. In addition to other routine tests, blood samples were drawn from the patient and his parents (who were first cousins) for genetic screening. The parents were discovered to have a rare genetic trait which both had transmitted to the son leading to his disease. The father inquired about the cause of the child’s illness and the results of genetic tests were explained to both parents. They asked no questions and left with medicines prescribed for their son. Six weeks later the mother returned alone with the child and told the physician that her husband had divorced her after hearing the genetic results.

This case highlights one of the several fallouts that accompany the growing availability and use of genetic tests in our part of the world. These are not “routine” medical tests that provide data specific to a patient’s disease, considered as her/his private information. Genetic tests identify familial genetic traits, and improper disclosure of this “shared information” can lead to unanticipated results. Many clinicians who order genetic tests do not have the requisite knowledge and skills necessary for genetic counselling so that the potential for tragic consequences for others, especially the most vulnerable in the family, can be minimized. The possibility of this occurring is heightened due to myths, misunderstandings and biases among the general public about hereditary traits and transmission of diseases from parents to children.

The science of human genomics is complex and expanding exponentially. Genetic tests are a byproduct of the increased funding for research in this field often at the cost of important “traditional” research including in public health. These tests are promising tools but they are still evolving, and their potential for benefits versus harms to patients is under global debate. Physicians, competent as they may be in their own specialty, are not educated in this field in medical college nor are they exposed to it during postgraduate training. The increase in the number of genetic tests ordered is occurring in the absence of professionals (physicians and/or non-physicians) with requisite training in interpreting complex genetic findings and skills to counsel patients in making informed choices. Many physicians I meet are unaware that genetic counselling sessions should be initiated before ordering tests and must continue following the results, and that like any other clinical intervention, patients/families have the right to refuse to undergo these tests.

The Genetic Testing in Emerging Economies (GenTEE) Project (2013), a systematic survey of genetic services across eight countries in three continents, revealed that a majority of front line physicians lacked knowledge about the genetic basis of diseases, interpretation of genetic test results, and need for genetic counselling of patients. The number of certified genetic counsellors (non-physicians) ranged from 0.06 to 0.2 per million population (PMP) whereas the recommended ratio is 6-12 PMP. The suggested ratio for medical geneticists (physician specialists in genetic medicine) is 3-5 PMP. To the best of my knowledge Pakistan, with a population of well over 200 million, currently has only 3 or 4 medical geneticists.

The GenTEE survey also revealed that genetic tests conducted in emerging economy countries are beyond the reach of most patients as they are available almost exclusively in the private sector and are exorbitantly expensive. In Pakistan the cost of genetic tests related to breast cancer can range (in 2019, certainly more today) from US$160 to over US$200. According to a colleague in a large cancer hospital in the country, if these tests reveal that Herceptin, a drug that can control growth of cancer cells, is indicated, the cost of this treatment amounts to thousands of dollars affordable by only 1% of their patients.

Better understanding of the human genome can provide additional tools to clinicians who take care of patients. However a tool is only as good as the hand that wields it, the mind that guides it, and a heart capable of seeing beyond the biological certainties of disease. Prudent application of science in clinical practice should factor in ethical, social and other considerations to minimize harms to patients and families. Otherwise, to paraphrase Ralph Emerson, we run the risk of science in the saddle riding mankind rather than the other way around.