With technological advances, it is getting easier and easier to unravel our DNA, read our genes, and discover genetic information about ourselves. But how do we understand what it means? And what do we with the information? That part has always been complex and it is likely to stay that way. This is because genetic information can have an impact on an individual’s as well as an entire family’s physical and psychological health.
To better illustrate this, is the story of Nur, a 25-year-old female struggling to survive. Nur has a genetic condition called beta-thalassemia. Due to this condition, Nur’s blood cells cannot do their job of transporting oxygen around her body. To manage this, Nur has to receive blood transfusions every few weeks. However, with the extra blood, Nur also receives extra iron that accumulates in her body and damages her organs. To minimize this damage, she uses an iron-removing drug, called an iron chelator, every night through an injectable pump. However, because Nur did not begin iron chelation until very recently, her organs are already badly damaged. Nur’s life is in danger.
When Nur was diagnosed, her doctors told her family that she had a genetic condition and would need regular blood transfusions and iron chelation. However, her family had difficulty adjusting to the diagnosis and its implications for their daughter’s life. They were fearful of losing her and assumed she would not survive past childhood. They still took her to her blood transfusions because they could see that Nur looked and felt better afterwards. They tried iron chelation but when they saw how much pain it caused Nur, they stopped. Nur’s family just wanted her to be as happy as possible. They even told her she did not have to go to school if she did not want to. As she said, “They didn’t want to put any expectations on me, which is very sad because if they had done that, I probably will be doing even better…I don’t blame them…but I think they could have done more to let me achieve a better quality of life.”
As Nur’s story shows, just knowing genetic information may not be enough. Individuals and families need to go through the difficult process of making sense of, adjusting to, and taking action based on genetic information. Genetic counselors can help families with this. In Nur’s case, a genetic counselor could have helped her family understand the medical implications of her condition. This would have helped them realize that though it might not have an obvious or immediate impact, iron chelation was essential for Nur to live a healthy and long life. A genetic counselor could have also helped Nur’s family understand the psychosocial implications of her condition. This would have helped them recognize that though Nur would require lifelong medical care, she could still go to school, get a job, have a family and lead a ‘normal’ life. Moreover, a genetic counselor would have educated her family about the familial implications of her condition, i.e. the possibility that they, or other members or their family, could have another child with beta-thalassemia. An understanding of inheritance would have helped the family prepare for having more children with thalassemia.
As genetic testing becomes increasing commonplace and commercial, our genetic code and its implications for our lives will be revealed to us. Thus, it is critical that we have access to professionals such as genetic counselors who can help us make sense of and adjust to the medical, psychological and familial implications of our genetic information.