Genetic Counseling

Certain types of cancer, including breast, ovarian, pancreatic and colon, are more likely to be inherited within families. Rare cancers, such as paragangliomas and medullary thyroid cancers, are also more likely to be hereditary than other types. Often, hereditary cancer conditions affect individuals in multiple generations of a family. Those who have hereditary cancer conditions may never develop cancer, but their risks to develop cancer are elevated compared to other people. An example of how an inherited cancer might be passed down would be if a parent has a hereditary predisposition to cancer, then each of their first-degree relatives (including their children and siblings) would have a 50 percent chance of having the same predisposition to cancer. These are some indications that could indicate hereditary cancer risk in a family:

• Multiple generations of a family with diagnoses of cancer
• Two or more close relatives on the same side of the family affected by the same or related cancers. Close relatives are parents, siblings, children, grandparents, grandchildren, aunts, uncles, nieces and nephews.
• Cancer diagnosis at an early age (usually under age 50)
• An individual who has multiple primary tumors or bilateral cancer or multiple types of cancer
• Pattern of tumors consistent with a specific cancer syndrome
• Rare types of cancer, including male breast cancer, medullary thyroid cancer or ovarian cancer
• High-risk ethnicity (i.e., Ashkenazi Jewish)

Knowing if you have a hereditary predisposition to cancer allows disease prevention or early detection through more attentive observation (breast imaging, colonoscopies), preventive surgeries or medications to lower cancer risk.

Inherited heart diseases are those that run in families and are caused by a mutation in one gene or in a number of genes. There are many conditions of inherited heart diseases including cardiomyopathies, thoracic aortic aneurysms and dissections, arrhythmias and familial hypercholesterolemia. Examples of heart conditions that can be hereditary include:

• Cardiomyopathies: Diseases of the heart muscle are major causes of morbidity and mortality
• Arrythmias: An abnormal heartbeat which occurs when the electrical signals that control the heart's rhythm don't work properly, causing the heart to beat too fast, too slow or irregularly. While some arrhythmias are harmless, others can be serious and even life-threatening.
• Dyslipidemias: When blood lipid levels are too high or low. Blood lipids are fatty substances, such as triglycerides and cholesterol, which can increase the risk for heart disease and heart attacks.
• Thoracic aortic aneurysm and dissections: Problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs. In addition, these conditions increase the risk of the aorta to break open (rupture).

Individuals who have hereditary heart conditions can be asymptomatic, and sometimes sudden death could be the first and only symptom. Symptoms vary from person to person. Knowledge of an underlying hereditary cause can help ensure that you and your relatives get the proper medical care to prevent serious or life-threatening events. This may include routine heart imaging (echocardiogram or cardiac MRI), monitoring heart rhythm (electrocardiogram), placement of a device to correct abnormal heart rhythms (implantable cardioverter defibrillator), medications to lower cholesterol or blood pressure.

Disorders of the neuromuscular system are clinically and genetically diverse but generally disrupt the function of the musculoskeletal or peripheral nervous systems, leading to progressive muscle weakness or difficulty moving. These can include:

• Muscular dystrophies
• Charcot Marie Tooth
• Neuropathies
• Motor neuron disease
• Ataxias

Neuromuscular disorders are classified into distinct categories, and the diagnosis is based on disease symptoms, genetic testing, electromyography, muscle biopsy, bloodwork and other testing. These conditions may have a genetic cause, although some can result from certain medications, exposures, illnesses, or vitamin deficiencies. Genetic testing to determine if there is an underlying cause of neuromuscular symptoms allows for the diagnosis of neuromuscular disorders without requiring invasive diagnostic testing such as muscle biopsy. Furthermore, identifying a genetic cause may result in targeted disease treatments or medications to delay/slow disease progression, and access to clinical trials.

Approximately 3-5 percent of all children are born with one or more congenital anomalies. While not all children who have congenital anomalies have an underlying genetic syndrome, the presence of multiple anomalies or rare anomalies increases the likelihood that there's a genetic explanation. Genetic conditions are caused by mutated (damaged) copies of one or more genes. Some pediatric genetic conditions are inherited from one or both parents while other genetic conditions are due to a new mutation that neither parent carries. Genetic counseling and/or testing should be considered for any child who has congenital anomalies, regardless of their family history. To explore the possibility that a child has a genetic condition, genetic counseling and/or consultation with a medical geneticist may be recommended. Common indications for genetic testing in children include:

• Autism spectrum disorder
• Epilepsy
• Global developmental delay
• Congenital malformations including congenital heart defects