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ASH 2024 | Advancements in genetic screening improve personalized genetic counseling in SCD and thalassemia
Sophia Delicou, MD, Hippokration General Hospital, Athens, Greece, briefly discusses how advancements in genetic screening techniques enhance genetic counseling in sickle cell disease (SCD) and thalassemia. These improved approaches allow for early identification of carriers and at-risk couples, enabling informed reproductive decisions and personalized counseling, including prenatal and preconception guidance. This interview took place at the 66th ASH Annual Meeting and Exposition, held in San Diego, CA.
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Transcript
The new genetic screening techniques are really helpful to improve genetic counseling, which is very important for these diseases, for sickle cell disease and thalassemia also. These technologies help identify carriers and at-risk couples, young couples, early on so they can make informed reproductive decisions and get personalized counseling. So also prenatal and preconception genetic counseling based on precise screening results can help families understand all the risks and all the available interventions and potential outcomes with these diseases...
The new genetic screening techniques are really helpful to improve genetic counseling, which is very important for these diseases, for sickle cell disease and thalassemia also. These technologies help identify carriers and at-risk couples, young couples, early on so they can make informed reproductive decisions and get personalized counseling. So also prenatal and preconception genetic counseling based on precise screening results can help families understand all the risks and all the available interventions and potential outcomes with these diseases. So this supports proactive management and improves quality of life for these patients.
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Disclosures
Honoraria: ELPEN, DEMO, Novo Nordisk, Pfizer, Bristol Myers Squibb, Novartis; Research Funding: ISIS, Vifor, Novo Nordisk, Bristol Myers Squibb, Novartis, Afimmune, Agios, Novartis; Consultancy: Pfizer, Bristol Myers Squibb, Novartis; Membership on an Entity’s Board of Directors or Advisory Committees: Afimmune, Novartis; Current Employment: Hippokrateio General Hospital.
