Genetic Counseling: How Qatar Foundation Is Bridging Science And Patient Care

(MENAFN- The Peninsula) The Peninsula

Doha, Qatar: Tasnim Fadl, a genetic counselor at Qatar Foundation's Qatar Precision health Institute (QPHI), plays a vital role in a field that combines the precision of genetics with the care and compassion of counseling. As a professional in a rapidly evolving field, she works at the forefront of genetic research and counseling, offering not only direct patient support but also raising public awareness about the importance of genetics in the prevention and management of health conditions. Through her work, she is deeply engaged in decoding health and empowering individuals to make informed health decisions.

Tasnim's passion for genetic counseling stems from her personal desire to make a positive impact, especially within the Arabic-speaking community, where there is a growing need for genetic counselors. She highlights the importance of premarital genetic screenings, which provide young couples with the knowledge to make informed decisions about their health and the health of their future children. In this context, these screenings are not just medical procedures, but powerful educational tools that guide individuals toward healthier futures.

Tasnim shares about her career path and importance of pre-marital tests.

What inspired you to pursue this career path, and what motivated you to choose this specific field?

Genetics is a dynamic and rapidly advancing field, with daily breakthroughs pushing the boundaries of our knowledge. As a relatively new subfield, genetic counseling combines the scientific rigor of genetics with the essential element of human interaction in the education and counselling part of the job. As a start, my background in biomedical sciences has provided me with a solid foundation to pursue a career in both genetic research and genetic counseling.

There is a growing international demand for genetic counselors, particularly Arabic-speaking professionals, to address the increasing burden of genetic diseases in this region. The role of a genetic counselor extends beyond helping patients and families; it also involves raising public awareness about the role of genetics in the development of various conditions. This fact by itself was a great motivator for me to pursue this line in my career accompanied with my personal desire to help people.

As a research genetic counselor in Qatar Genome Program (QGP), part Qatar Precision Health Institute (QPHI) at Qatar Foundation, I have had the opportunity to contribute greatly to community outreach initiatives aimed at raising genetic awareness across diverse groups, including children, students, parents, researchers and the general public. Through these efforts, I have been able to help educate the community and promote a deeper understanding of genetic health says Tasnim.

What is the most memorable experience you've had in your career so far?

Case 1: A family sought genetic counseling because their youngest daughter, who was 3 years old at the time, had begun experiencing developmental regression. Although she had been developing normally, she started losing motor and verbal skills and exhibited symptoms resembling ataxia. Genetic testing was performed on the child and her parents, which revealed the underlying cause of her symptoms. The child was diagnosed with Ataxia-Telangiectasia, a genetic condition caused by mutations in both copies of the ATM gene. Sadly, this disease affects the child's life expectancy, and there is currently no cure for it.

The most challenging part of delivering this news was informing the parents-who were consanguineous-that they were both carriers of a single mutation in the ATM gene, which also increases the risk of certain cancers, including breast cancer. This information added a layer of complexity to the situation, as it not only impacted the affected child, but also raised concerns for the health of the parents and their other children.

As a genetic counsellor, I was facing multiple emotions from the parents, but the most prominent distress raised from their guilt feeling that they have contributed to the sickness of their child due to negligence and missing multiple hospital appointments complexity of the case required multiple appointments, which in term guaranteed the initiation of trust between he family and the genetic counseling, ensuring alleviation of all of their fears and their concerns.

Carrier Mother, Carrier Father
Affected child

Case 2: A 41-year-old woman was diagnosed with breast cancer and found to have a genetic mutation responsible for her condition. Interestingly, she had also been diagnosed with breast cancer 10 years earlier at the age of 31, but no genetic testing had been done at that time, as she was treated outside Qatar. This new genetic diagnosis was devastating for the patient, to the point that she was overwhelmed with emotion, bursting into tears making her unable to speak or engage during the consultation. The genetic mutation not only predisposed her to breast cancer, but also increased her risk for other types of cancer, including ovarian cancer, which posed a significant concern for her fertility. The patient had not yet started a family, and the implications of this diagnosis were particularly distressing.

It was particularly difficult for her to process the news, knowing that genetic testing should have been conducted a decade ago, potentially preventing her current diagnosis. While extensive education and emotional support were provided, the gravity of the situation left the patient struggling to cope. As a result, she was referred for a mental health assessment and counseling to address the emotional and psychological impact of the diagnosis says Tasnim.

Can you tell us about some of the research and technology that you are working on? How do you think that it will help people?

As a pioneering national genome program dedicated to advancing precision health across the population, we strive to stay at the forefront of the latest developments in the field. The global focus is increasingly shifting towards calculating genetic risk for common conditions-those that may manifest only when genetic predisposition is accompanied with environmental and behavioral factors.

By collaborating with local stakeholder institutions, we enable researchers to work closely with us to adapt existing international risk algorithms to better suit our local understudied population. Providing genetic risk information to healthy individuals empowers them to adopt preventive measures and/or changing lifestyle to alter their risk, enhancing both personal and clinical outcomes from these insights.

Why is pre-marital tests crucial to young couples?

In today's digital age, the widespread availability of information on the internet makes it easy for individuals to access both reliable and unreliable content, especially regarding genetics and potential conditions that may affect future children. In this context, premarital screening programs play a crucial role not only as public health prevention measures but also as powerful educational tools. They help correct misconceptions, particularly for families with a known history of genetic conditions, ensuring they receive accurate, evidence-based information.

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