Latest news with #geneticcounseling
Medscape
4 days ago
- Health
- Medscape
The Genetic Counselor: Your Clinic's Missing Link
'Prioritizing Counseling in Genetic Counseling' was a thought-provoking workshop title at the 2025 European Society of Human Genetics Conference, held May 24-27 in Milan, Italy. While it may seem obvious that counseling should be prioritized at a meeting dedicated specifically to counseling patients and their families, this is not always the case in practice. Advances in technology and increasingly complex data could shift the focus toward technical details, often sidelining core counseling principles. These include the emotional burden of living with a genetic disorder or anxiety associated with an increased risk of developing one. 'This focus on issues beyond 'simple' genetics is what defines the role of a genetic counselor. The role is distinct from that of a medical geneticist and is trained in psychological aspects.' Christophe Cordier, PhD, Head of the Genetic Counselling Unit and Genetic Counsellor at Sonic Suisse, Switzerland, told Univadis Italy . Cordier also teaches in the Master's program in genetic counseling at the University of Siena, Siena, Italy, currently the only institution in Italy offering such a course. Theory and Practice Who, then, is the genetic counselor, and what is their role? Jehannine Austin, PhD, is professor and head in both the Departments of Psychiatry and Medical Genetics, and Graduate Advisor in the Genetic Counselling Training Program at the University of British Columbia, Vancouver, British Columbia, Canada, addressed this in her presentation. Since the 1940s, when the term 'genetic counseling' first appeared, the profession has evolved dramatically. It shifted from a service delivered by physicians and researchers, who, despite an official definition free of eugenic intent, focused largely on preventing families from conceiving children with birth defects, to a process designed to help individuals understand and adapt to genetic contributions to the disease. Yet even the most recent definitions fall short, Austin argued: 'It seems to me that it describes the process and not what we should do with patients.' She offered an updated definition: Genetic counseling is a true 'therapeutic interaction' that helps patients make sense of genetic information and apply it in line with their values, needs, and desires. This expansive theory has outpaced practice, often limiting counselors to those with positive genetic test results. In this situation, counselors can encounter burnout problems linked to dissatisfaction or a marked difference between theory and practice. Numbers Matter When faced with genetic data, practitioners can adopt two possible approaches to counseling: One based on what can be defined as 'teaching' and one based on counseling. Both aim for behavioral change; however, teaching drives change from the outside, whereas counseling fosters change from within. Counseling is not only about conveying numbers and ensuring patient comprehension; it is also about helping patients understand why their questions and answers matter, often for deep psychological reasons that can be addressed in a session. 'If we truly want to change someone's behavior, we cannot assume that communicating genetic data,' Austin said. She stressed the importance of integrating genetic data into a coherent narrative that instills responsibility and awareness of how actions matter. It is equally important to address emotions that may block behavioral changes. Counselor Role 'For me, prioritizing counseling is the rule, I could not do otherwise,' Cordier told Univadis Italy . He insisted that direct face-to-face interaction with those participating in the counseling session, whether they are patients or not, is fundamental. 'I do even believe telemedicine or virtual consultations — which can be useful in some particular cases but cannot and must not be the norm, since the psychological implications of a genetic interview are extremely varied and often heavy,' he added. Genetic counseling is a standalone profession that complements other professions. Cordier stated, 'The medical geneticist makes the diagnosis; the counselor takes care of other things, for instance, supporting the geneticist in communicating the result and taking care of emotional and psychological aspects of the diagnosis or referral for testing,' highlighting the pivotal role of the primary care physician as the first point of contact. 'The counselor often serves as a filter between the patient and the geneticist,' said Irene Feroce, a certified genetic counselor at the Division of Cancer Prevention and Genetics, European Institute of Oncology, Milan, Italy, who shared the insight with Univadis Italy . This significantly helps physicians to deal only with patients who need to undergo the test. 'All this also translates into a significant economic saving for the health system,' said Feroce. 'Let's not forget, if we want to talk about savings, that a counselor 'costs less' than a doctor,' Cordier said. Professional Challenge In summary, genetic counselors offer multiple benefits. 'In every context in which I have asked at conferences, working groups, commissions, etc. I have always been told that the counselor is a necessary figure,' Cordier said. However, only a few countries, such as France and Iceland, have officially recognized the profession, leading to frustration and burnout among counselors. Barriers often include funding constraints or misunderstandings about the role of these professionals, and sometimes physicians' fear about being replaced by counselors and losing part of their jobs and positions. Genetics now touches every medical specialty, but not everyone needs genetic testing, and not all healthcare professionals can provide counseling. 'We need a change of mentality that gives the right importance to the specificities of different professionals, and we need projects to expand the knowledge among patients and physicians on these issues,' said Cordier and Feroce in unison. 'Keep going. Do not give up!' Cordier advised the aspiring genetic counselors.
Daily Mail
11-05-2025
- Entertainment
- Daily Mail
Woman discovers horrific secret about her husband after taking ancestry test
A mother-of-two claims her life was 'flipped on its head' when she took an ancestry test that revealed the shocking truth about her husband. The woman purchased the Ancestry DNA test on a whim as something 'fun' to do—hoping she and her husband would learn more about their families in the process. But instead they received devastating news that they were, in fact, siblings. In a viral post on Reddit the woman, who knew she was conceived via a sperm donor, wrote: 'We got the results, and… I matched with him. My husband. As a half-sibling.' The couple were horrified to discover they shared the same biological father—particularly as the husband had never known he, too, was donor conceived. 'At first, I thought it had to be some kind of mistake, or maybe I misunderstood something. 'But no, after looking into it, we realised his dad was also a donor, and no one ever told him. 'Now, here we are, married for years with two kids, and we're still trying to figure out how to process the fact that we're siblings.' The mother of two went on the detail the fallout following the unsettling match. 'I don't even know how to explain how I feel. It's just… overwhelming. I love him, of course, but this changes so much. I just feel kind of lost. 'We've already spoken to a genetic counselor, and we're trying to move forward, but it's like everything we thought we knew about our family has been flipped upside down.' Around 4.7million of the British population is estimated to have used a DNA-testing kit—encouraged by the popularity of ITV series DNA Journey, which traced the ancestry of pairings including Ant and Dec and entertainers Amanda Holden and Alan Carr. Customers simply provide a spit sample, which is placed into a tube then sent back to the company's laboratory. The £94 Ancestry DNA test analyses 700,000 genetic markers—specific points in a person's DNA that can offer clues about ancestral origins. This genetic data is then compared to population samples from over 350 regions around the world. These regions represent groups of people who have lived in the same area for many generations and developed distinct genetic patterns. By identifying similarities between an individual's DNA and these regional patterns, the test estimates where their ancestors may have lived. Commenting on the Reddit post, one user wrote: 'This was bound to happen somewhere in the world, at some point, given the current unregulated fertility industry that puts profits above the rights and interests of the donor conceived child. In the UK, using donor sperm for insemination requires going through a licensed fertility clinic. This ensures the sperm is screened for health issues and genetic diseases, and that the insemination process is overseen by qualified professionals. A donor's sperm can be used to create babies for a maximum of ten families, and the donor is not legally recognised as the father of any child born through the process. However earlier this year, Dutch medics have revealed that sperm from just 85 donors was used to father thousands of children, leading to fears of accidental inbreeding among the country's population. The country's gynaecology and obstetrics organisation, the NVOG, said that at least 85 men have become 'mass donors', defined as having fathered 25 or more children each. The organisation revealed that Dutch fertility clinics have been breaking strict rules around donations for decades. The most famous mass donor was Jonathan Meijer, a notorious Dutch YouTuber who has so far fathered 550 children and was the star of Netflix documentary 'The Man with 1,000 Kids.' The 43-year-old faced a lawsuit in 2023 due to fears of unintentional incest and inbreeding between his children, and because he had gone well past the Dutch limit of fathering 25 donor children.
