‘I’m at constant risk of cancers’ — lifelong tests

“i’m constant risk cancers” — living with a rare Cowden variant

“I’m at constant risk of cancers … I need tests for the rest of my life,” says Bella Grambau, a woman from the Gold Coast whose diagnosis of a rare variant of Cowden syndrome has put her on a permanent surveillance programme. Bella’s description — that she must have “virtually every test, every six months, for life” — captures the blunt reality for people with high‑penetrance hereditary cancer syndromes: genetic change does not guarantee cancer, but it raises the odds enough that medical teams recommend ongoing, proactive screening.

i’m constant risk cancers — what a surveillance programme looks like

Surveillance for high‑risk genetic syndromes is structured and often intensive. It is tailored to the specific gene involved and to the person’s age, sex and personal medical history, but certain elements recur across programmes: scheduled imaging, specialist clinical exams, and procedures timed to catch early, treatable cancers. For people with Cowden syndrome, guidelines used by clinical geneticists and oncologists generally include regular breast imaging (often yearly MRI and mammography starting earlier than average), annual thyroid ultrasound from childhood or adolescence, dermatology checks for characteristic skin lesions, and attention to gastrointestinal and renal surveillance when indicated.

Frequency varies. Some tests are annual, others are recommended every six months, and some, such as colonoscopy, may be spaced at longer intervals depending on prior findings. Bella’s statement about tests every six months illustrates the upper end of intensity: clinical reviews and imaging twice a year are common when a clinician judges that risk control justifies that cadence. The practical effect is a lifetime schedule of appointments, scans and, sometimes, biopsies — a medical rhythm that can feel relentless.

That schedule answers one of the common patient questions: how often should someone with hereditary cancer risk be screened? There is no single answer. Screening plans are evidence‑driven where possible, but for rare variants or unusual presentations clinicians combine published guidelines, multidisciplinary expertise and individual preference to set intervals. A clinical genetics team will often recommend more intensive surveillance when a family history includes multiple early cancers, or when a variant’s effect is poorly characterised and clinicians opt for caution.

Genetic testing, options and who should consider them

Genetic testing today ranges from single‑gene tests (targeted when a specific syndrome is suspected) to multi‑gene panels that assess dozens of cancer‑associated genes at once. Whole‑exome or whole‑genome sequencing is sometimes used in research settings or when initial tests are non‑revealing. People who should consider testing include those with multiple primary cancers, an unusually early diagnosis, a strong family history of the same or related cancers, or characteristic benign findings — all flags that a hereditary condition might be present.

One of the common public questions is whether lifestyle can manage a high cancer risk. Healthy behaviour — stopping smoking, moderating alcohol, maintaining healthy weight, and regular exercise — reduces population cancer risk and may modestly influence outcomes for some individuals, but it does not negate a high‑penetrance genetic risk. For gene‑driven surveillance, lifestyle change is complementary, not curative.

Care choices, costs and the psychological burden

Decisions about lifelong surveillance are medical, financial and deeply personal. Regular imaging and specialist visits add cost, travel and time burdens; in some health systems patients face out‑of‑pocket expenses that can be substantial. The 9News reporting on people who travel overseas for experimental treatments underlined another risk: when conventional medicine offers limited options, vulnerable patients sometimes pursue unproven therapies at high personal expense. National cancer and clinical genetics services advise caution and encourage discussion with local clinicians before seeking experimental care abroad.

The psychological load of perpetual testing is real. Patients describe anticipatory anxiety ahead of scans, the relief of clear results and the persistent background knowledge that a serious diagnosis could still arrive. That heaviness shapes family planning, careers and daily life. Good clinical practice recognises this: genetic services typically include psychosocial support, peer networks and referral to counselling when needed.

Questions to ask your clinician about lifelong surveillance

When genetics or oncology teams recommend long‑term surveillance, patients should come prepared with a few practical questions that shape care. Key questions include: What is the estimated absolute and relative cancer risk associated with my specific variant? Which tests and how often do you recommend, and why? What are the benefits, harms and likely outcomes of increased screening? Are there risk‑reducing surgical or medical options I should consider? How will results be communicated, and what support is available if a new diagnosis appears?

Also ask about family implications: who in my family should be offered testing, and what are the implications for insurance and employment where relevant? Finally, ask about clinical trials and registries — participation can provide access to new options and also help build the evidence base for rare variants, which is crucial when a particular genetic change is uncommon.

The story of Bella Grambau is a vivid reminder that for some people genetics converts future uncertainty into a lifetime of vigilance. That vigilance — frequent imaging, specialist reviews and genetic counselling — can detect cancers earlier when they are most treatable, but it also requires a health system prepared to support the medical, financial and emotional costs. As genetic testing becomes more common and panels detect more rare variants, clinicians, patients and health services must work together to convert knowledge into sensible, sustainable care plans.

Sources

• Gold Coast University Hospital (clinical genetics and oncology services)
• Cancer Council Australia (national guidance and patient information)