Personalized Genetic Healthcare Center

Personalized Genetic Healthcare Center, Thonburi Bumrungmuang Hospital, provide diagnostic and clinical care for patients to know their risk in medical conditions or some cancer types. Patients are assessed with the most updated methods to help them maintain well-being. Risk of diseases are assessed and can be planned for early prevention.

Personalized Genetic Healthcare Center, Thonburi Bumrungmuang Hospital provide services are followed:

● Diagnostics for genetic diseases and rare diseases

● Assess hereditary cancer syndromes

● Assess family history for risks

● Educate patients and families and counsel to help in family planning.

Articles about genetics

Hereditary Cancer

     Most cancers occurred sporadically and may resulted from environmental exposures or chances of cells abnormal growth with gene mutation. Such mutation does not pass on to the patient’s offspring. However, some cancers occurred from mutated gene which can be inherited from family members. Genetic testing together with evaluation of family history can be used to create a personalized cancer screening and surveillance for each person.

Who should take genetic tests for cancer?

● A person diagnosed with cancer early in life (Example: Diagnosed with breast cancer or colon cancer with age lesser than 50 years old)

● Multiple family members diagnosed with cancers in many generations

● More than 2 types of cancers within the same person (Example: Breast and Ovarian cancer or breast cancer in both breasts)

● Positive for Gene mutation (For Example: Relatives found to be positive for BRCA1/2 mutation)

● Colon polyps

● Occurrence of rare cancers such as breast cancer in men

Multi-Cancer Panel Testing includes:

● Breast and gynecologic (breast, ovarian, uterine)

● Gastrointestinal (colorectal, gastric, pancreatic)

● Endocrine (thyroid, paraganglioma/pheochromocytoma, parathyroid, pituitary)

● Genitourinary (renal/urinary tract, prostate)

● Skin (melanoma, basal cell carcinoma)

● Brain/nervous system

● Sarcoma

● Hematologic (myelodysplastic syndrome/leukemia)

BRCA1 and BRCA 2 Gene Testing

      BRCA1 and BRCA2 are example of genes which increase risk of cancer if mutated. Breast cancer and ovarian cancer are associated with BRCA1 and BRCA2 mutations which can be inherited from their parents and passed onto their offspring.

Woman who found to be positive with BRCA1 mutation has lifetime risk of 56-87% in breast cancer and lifetime risk of 44% in ovarian cancer. In men, the lifetime risk of prostate cancer is estimated at 20% for BRCA1 positivity.

Woman who found to be positive with BRCA2 mutation has lifetime risk of 56-87% in breast cancer and lifetime risk of 27% in ovarian cancer. In men, the lifetime risk of breast cancer is 6% and prostate cancer is estimated at 20% for BRCA2 positivity.

Melanoma and pancreatic cancers are also associated with BRCA2 mutation.

Colorectal Cancer Gene Testing

       Colorectal cancer (CRC) is a malignancy of the large intestine (colon) and/or rectum. It usually begins as small, noncancerous (benign) clumps of cells called polyps that form on the inside of the colon. Hereditary colon cancer syndromes are generally divided into two types, Lynch syndrome and polyposis syndromes. Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is caused by pathogenic variants in MLH1, MSH2, MSH6, PMS2 and EPCAM. This condition is the most common inherited cause of colorectal cancer. Polyposis syndromes are characterized by the development of numerous precancerous polyps, which may become malignant. There are many treatments available including surgery, radiotherapy, chemotherapy, targeted therapy, and immunotherapy.

      Adults aged 45-75 years old are recommended to be screened for colorectal cancer. People with increased risk such as having family history of colorectal cancer should consider screening sooner.

Risk factors

Factors that may increase your risk of colon cancer include:

● Older age: majority of people with colon cancer are older than 50

● Inherited syndromes from gene mutations passing through generations of family: The most common are familial adenomatous polyposis (FAP) and Lynch syndrome

● Family history

● Personal history of colorectal cancer or polyps

● African-American have a greater risk of colon cancer than other races

● Chronic inflammation of colon such as ulcerative colitis and Crohn’s disease

● Low-fiber and high-fat diet which may be associated with Western diet

● Sedentary lifestyle

● Diabetes

● Obesity

● Smoking

● Alcohol consumption

● Previous radiotherapy directed at the abdomen

Genetic Testing for Parents-to-be

    The American College of Obstetricians and Gynecologists, recommends that carrier screening be offered to all women who are pregnant or planning to become pregnant. Carrier screening can provide information for your risk assessment if you and your partner may carry certain genes which may cause medical conditions to your baby, such as cystic fibrosis or spinal muscular atrophy.

What does it mean to be a carrier?

    A carrier is a person who has genetic change (variant) which can be passed to next generations. Carriers do not typically have symptoms but do have risk of passing the condition to their children. Even if there is no one in the family who has a condition, parents can still be a carrier to rare genetic diseases in babies.

Key Genetic Condition Screening

● Alpha thalassemia: an inherited blood disorder that causes anemia and prevent your body of getting enough oxygen

● Cystic fibrosis: an inherited genetic condition, which can cause abnormal mucus production leading to lung disease and nutritional deficiencies

● Spinal muscular atrophy: an inherited neuromuscular disorder that causes severe muscle weakness and progressive loss of voluntary muscle control. The most common type of spinal muscular atrophy (SMA) is type 1, which begins in the first few months of life and children with this type typically pass away before the age of two

● Congenital adrenal hyperplasia: a genetic condition characterized by an imbalance in the hormones produced by adrenal glands, such as aldosterone, cortisol, and androgens leading to variety of potential clinical symptoms.

● Fragile X: a family of inherited genetic conditions caused by changes in the gene FMR1, which is located on the X chromosome. FMR1 has a set of three letters of DNA “CGG” that repeat over and over and the number of repeats determine whether a person will have a fragile X disorder. Premutation (55-200 repeats) may associate with neurodegenerative disorder after age 50 including tremors, memory loss dementia, lower limb weakness, and mental or behavioral changes or reproductive condition causing early menopause. Full expansion (200+ repeats) may affect nervous systems and those affected may display intellectual disability, behavioral, and learning challenges, and various facial characteristics.