Latest news with #geneticCounseling
CTV News
a day ago
- Health
- CTV News
International Neonatal Screening Day
Atlantic Watch We chat with a genetic counsellor about the process of neonatal screening, and why it can be so beneficial.
Medscape
4 days ago
- Health
- Medscape
Docs Urged to Use Genome Tests to Diagnose Kids Early
'Knowing what's going on at the genetic level can make a huge difference,' Stoler said. 'It's about clarity, not just for doctors, but for families navigating an uncertain journey.' Access and Adoption Challenges Remain Pediatricians are generally willing to refer or order genetic testing but face several barriers, said Julian Martinez-Agosto, MD, PhD, an associate professor of genetics at UCLA Health. 'Perceptions about lack of clinical utility or impact on patient outcomes have been a primary barrier,' said Martinez-Agosto, who was not involved with the AAP report. 'Other barriers include lack of time due to high clinic volumes, unfamiliarity with the testing process, and insecurity about discussing results — especially when they're uncertain or relate to reproductive planning.' Martinez-Agosto said health systems can improve access by offering primary care clinicians accessible education and tools to support counseling and interpretation. Still, interpreting genetic results can be complex. Some findings may present unclear significance. Others may uncover unrelated but medically relevant information, such as a predisposition to adult-onset diseases. 'It would be optimal for the pediatrician to have the involvement of a trained genetic professional,' Stoler said. Indeed, the report states that genetic counseling should be offered both before and after testing, especially when test results carry uncertain significance or broader family implications. Additional barriers include cost and inconsistent insurance coverage. However, Pastinen noted recent signs of improvement. 'In the last 3 years, there's been a substantial increase in Medicaid coverage for early genomic sequencing in unsolved pediatric disease,' Pastinen said He also said the new AAP guidance could help push insurance companies still hesitant to cover these tests. 'Every year we see better coverage by insurers,' he said. 'I hope this is another piece in the reimbursement puzzle.' Demarest had consulted for, received grant funding from, and served on advisory boards of BioMarin, Neurogene, and Marinus, among others. The Precision Medicine Institute at Children's Hospital Colorado has ongoing partnerships with Illumina, although Demarest reported not receiving any direct compensation from this partnership. Stoler, Pastinen, and Martinez-Agosto reported no relevant financial conflicts of interest. Lara Salahi is a health journalist based in Boston. Lead image: Moment/Getty Images
The Independent
10-06-2025
- Health
- The Independent
Gaps in genetic testing mean some patients not informed about cancer risk
A new study reveals inconsistencies in genetic testing for Lynch syndrome, potentially leaving cancer patients and their families unaware of their risk of developing other cancers. Lynch syndrome is a rare hereditary condition that elevates the risk of bowel, womb, and ovarian cancers due to a gene mutation affecting DNA error correction. The University of Edinburgh study examined data on 2,500 womb cancer patients and found that while 91 per cent of tumours were tested for Lynch syndrome markers, the results were not always communicated to clinical teams, hindering follow-up genetic counselling. Of the 181 eligible participants, only 64 per cent were referred for genetic counselling, and due to long waits and high dropout rates, only 48 per cent ultimately received the test. Dr. Neil Ryan from the University of Edinburgh emphasises the need for mainstream testing to be truly mainstream to ensure timely diagnosis and reduce cancer risk for patients and their relatives.
The Independent
10-06-2025
- Health
- The Independent
More testing needed for genetic cancer risk as too many women ‘missed', experts say
A new study has revealed that families of some cancer patients are being denied the opportunity to learn about their potential cancer risk due to inconsistencies in genetic testing. Academics have warned that the absence of adequate testing for Lynch syndrome is leaving some cancer patients unaware of their risk of developing other cancers. Lynch syndrome, a rare hereditary condition, elevates the risk of cancers of the bowel, womb, and ovaries. It arises from a gene mutation affecting DNA error correction during replication, potentially leading to uncontrolled cell growth. NHS guidelines stipulate that patients with bowel or womb cancer should undergo tumour assessments for Lynch syndrome markers. The identification of these markers should prompt a referral for genetic testing, confirming the diagnosis and enabling access to support and guidance regarding cancer risks for both the patients and their families. A new study by academics at the University of Edinburgh found not all womb cancer patients are being sent for genetic testing. Researchers examined data on 2,500 womb cancer patients across the UK and Ireland between 2022 and 2023. They found that 91 per cent of tumours were tested for markers of Lynch syndrome, but the test results were not routinely communicated to the wider clinical team. This means that follow-up genetic counselling and blood tests were not always arranged. Of the 181 participants eligible for genetic counselling, just under two-thirds (64 per cent) were referred for appointments, according to the study, which has been published in the journal BMJ Oncology. Researchers said those who were referred faced long waits, resulting in high dropout rates, meaning only 48 per cent of those eligible went on to get the test. Experts from the university said gaps in testing mean some womb cancer patients with Lynch syndrome go undetected. Family members are also left vulnerable to cancer risk, unaware they may have the condition. Dr Neil Ryan, from the University of Edinburgh, who leads the UK audit and research collaborative in obstetrics and gynaecology, said: 'Despite clear guidance and excellent rates of tumour testing, too many women with Lynch syndrome are still being missed because they're not referred for definitive blood testing in a timely way. 'This not only denies them the chance to reduce their future cancer risk but also prevents their relatives from being tested and protected. 'Tumour testing is only cost-effective if it leads to diagnosis — we urgently need to make mainstream testing truly mainstream.'
The Independent
10-06-2025
- Health
- The Independent
Women with genetic cancer risk being ‘missed' due to testing gaps
Families of some cancer patients are being denied the chance to find out about their cancer risk due to gaps in genetic testing, a new study has suggested. A lack of testing for Lynch syndrome also means some cancer patients are unaware of their risk of developing other cancers, academics said. Lynch syndrome is a rare condition which runs in families which puts people at a higher risk of developing cancers of the bowel, womb and ovaries. It is caused by a mutation in the gene that fixes mistakes in DNA when it is copied, which can lead to uncontrolled cell growth. Patients with bowel or womb cancer should have their tumours assessed for markers of Lynch syndrome, according to guidance for the NHS. If these markers are identified, patients should be referred for genetic testing so the diagnosis can be confirmed and they can get support and advice about cancer risk for themselves and their family. A new study by academics at the University of Edinburgh found not all womb cancer patients are being sent for genetic testing. Researchers examined data on 2,500 womb cancer patients across the UK and Ireland between 2022 and 2023. They found that 91% of tumours were tested for markers of Lynch syndrome, but the test results were not routinely communicated to the wider clinical team. This means that follow-up genetic counselling and blood tests were not always arranged. Of the 181 participants eligible for genetic counselling, just under two-thirds (64%) were referred for appointments, according to the study, which has been published in the journal BMJ Oncology. Researchers said those who were referred faced long waits, resulting in high dropout rates, meaning only 48% of those eligible went on to get the test. Experts from the university said gaps in testing mean some womb cancer patients with Lynch syndrome go undetected. Family members are also left vulnerable to cancer risk, unaware they may have the condition. Dr Neil Ryan, from the University of Edinburgh, who leads the UK audit and research collaborative in obstetrics and gynaecology, said: 'Despite clear guidance and excellent rates of tumour testing, too many women with Lynch syndrome are still being missed because they're not referred for definitive blood testing in a timely way. 'This not only denies them the chance to reduce their future cancer risk but also prevents their relatives from being tested and protected. 'Tumour testing is only cost-effective if it leads to diagnosis — we urgently need to make mainstream testing truly mainstream.'
