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Advancing Care - 2023 | Issue 2

genetic testing

Is genetic testing for Alzheimer’s disease right for you?

Chris Hemsworth, the Australian actor perhaps best known for his role as Marvel Comics superhero Thor, recently made the news for a more personal reason: his DNA results. While filming a new docuseries about health and aging, the 39-year-old actor discovered that he has two copies of a gene variant called APOE e4 linked to an increased risk of developing Alzheimer’s disease after the age of 65. His story has many people asking themselves, “Should I have my genes tested, too?”

According to experts at Yale New Haven Health, the answer is: It depends – but that’s probably not the first thing you should do. 

“Alzheimer’s disease is just one type of the conditions that present with dementia,” said Anna Szekely, MD, a neurologist and geneticist who leads the Yale Neurogenetics Clinic in the Department of Neurology at Yale School of Medicine.

Dementia describes a group of symptoms that affect memory, thinking and social abilities severely enough to impact a person's ability to carry out daily activities. Having memory loss alone doesn't mean you have dementia, although it can be an early sign.

While Alzheimer's disease is the most common cause of a progressive dementia in older adults, there are other causes of dementia with similar features. It’s also important to note that only a small fraction of progressive dementias are hereditary. Dr. Szekely said physicians and patients must consider several factors before proceeding with genetic testing: the dementia symptoms, how old you are when the symptoms begin and your family history.

“For Alzheimer’s disease and other progressive dementias, we call it ‘early-onset’ if the symptoms begin before the age of 60-65. If symptoms develop after 65, that is referred to as ‘late-onset,’” said Dr. Szekely, who works closely with the Yale Memory Disorders Clinic and also evaluates patients referred from the Yale Alzheimer's Disease Research Center. “We don’t routinely recommend genetic testing for late-onset dementias unless there is a significant family history, or a patient is planned to receive novel anti-amyloid antibody treatment. But if you're showing early-onset symptoms or if you have a family history of early-onset disease, a detailed genetic testing is appropriate because there is a much higher chance of the dementia being hereditary.” 

To test or not to test?

Currently available guidelines typically don’t recommend genetic testing for people who don’t have any symptoms and only have a minor family history of late-onset dementia. The main reason is because of what the test can – and can’t — tell you. The results are complex to interpret. While researchers have identified several genes and their variants that are associated with late-onset Alzheimer's disease, many of these are relatively common gene variants also seen in people who will never develop the disease. 

What may matter more is the specific type and grouping of these variants, according to Bilal Hameed, MD, a Yale Medicine neurologist affiliated with Lawrence + Memorial Hospital

Even then, most of these gene variants only increase your probability of developing the disease. They are not a guarantee.

“Genetic factors only partly account for the risk of developing Alzheimer’s disease. Just because you have one of the high-risk genes does not necessarily mean that you would definitely end up developing the disease by a certain age. Of course, people with negative genetic tests can go on to develop Alzheimer’s disease as well. Lifestyle modifications play an important role in counteracting both genetic and nongenetic risk factors to help you lead a healthy life,” he said. 

In other words: Some dementia symptoms may be preventable. You can help reduce your risk by taking these steps:

  • Follow a balanced diet that focuses on plant-based foods, healthy fats and moderate amounts of fish, seafood and poultry. Limit added sugars, red meat and highly processed foods. Dr. Szekely and Dr. Hameed recommend the Mediterranean diet plan. 
  • Maintain a healthy weight.
  • Exercise your body and your brain regularly. 
  • Keep alcohol use within recommended limits.
  • Stop smoking.
  • Keep your blood pressure at a healthy level. 

“Conditions such as high blood pressure, high cholesterol, type 2 diabetes, obesity and alcoholism are additional factors that may impact the development of dementia,” Dr. Hameed said. 

Start the conversation

If you are concerned that you or a family member may be developing signs of dementia, talk to your primary care provider or a neurologist. The doctor will ask questions about your medical history, perform a physical exam that focuses on neurological function, conduct a series of cognitive assessments and order one or more diagnostic tests. Depending on the results, your doctor may refer you to a neurologist who specializes in memory disorders. 

Common signs of Alzheimer’s disease include: 

  • Cognitive changes:
    • Memory loss, which is usually noticed by someone else
    • Difficulty communicating or finding words
    • Difficulty with visual and spatial abilities, such as getting lost while driving
    • Difficulty reasoning or problem-solving
    • Difficulty handling complex tasks
    • Difficulty with planning and organizing
    • Difficulty with coordination and motor functions
    • Confusion and disorientation
  • Psychological changes:
    • Personality changes
    • Depression
    • Anxiety
    • Inappropriate behavior
    • Paranoia
    • Agitation
    • Hallucinations

The complex needs of older patients experiencing dementia symptoms require healthcare professionals with expertise in the field of aging. Yale New Haven Health offers a wide range of services for older adults coping with Alzheimer's or other types of dementia. 

Learn more about the Neurosciences Department at Lawrence + Memorial Hospital.

It’s a team effort for treatment of urologic cancers 

With urologic cancers, including prostate, bladder, kidney, urothelial upper tract, testicular, penile and urethral cancer, on the rise, the team at the Smilow Cancer Hospital Care Center at Westerly Hospital designed a clinic where patients with prostate and urologic cancers can meet with all of their providers at the same time, in the same place. 

In the past, patients typically needed to schedule multiple appointments with their urologist and other specialists before receiving a recommendation for care. The team noted that improvements in communication between specialists and the patient could enhance the patient’s experience, according to Matthew Austin, MD, medical oncologist at Westerly Hospital and assistant professor of clinical medicine (medical oncology) at Yale Cancer Center.

Continue reading about treatment for urologic cancers >

Free wellness workshops in Westerly and New London

Westerly Hospital and Lawrence + Memorial Hospital offer a series of free wellness programs that cover a variety of health topics. There is no charge for these programs; however, in-person attendance is limited so registration is required. All classes start at 5 pm. 

  • March 29: “Colon Cancer Screening: Simple and Lifesaving”
    Learn the new guidelines, screening options available and discuss ways to prevent colon cancer.
    Speaker: Daniel Pievsky, DO, gastroenterology, NEMG
    Location: Westerly Senior Center, 39 State St.
    Register online or call 1-800-636-2824.
  • April 12: “Why Sleep is Essential for your Health”
    Discuss the importance of sleep for your overall health, common sleep disorders and treatments available. 
    Speaker: Jean Ansel, APRN, NEMG
    Location: Westerly Hospital, 25 Wells St.
    Register online or call 1-800-636-2824.

  • April 25: “A Safe Approach to Medication Management” 
    Learn the proper way to manage your medications to reduce your risk of side effects and hospitalization. 
    Speaker: Matt Amaral, clinical pharmacist
    Location: Westerly Hospital, 25 Wells St.
    Register online or call 1-800-636-2824

  • April 27: “Breathe Easier with Lung Cancer Screenings” 
    Speaker: Louis Mazzarelli, MD, diagnostic radiology, L + M Hospital
    Location: Lawrence + Memorial Hospital, 365 Montauk Ave., New London
    Register online or call 1-800-562-2537. 

  • May 2: “Understanding Melanoma: Early detection, prevention and treatment”
    Discuss sun-safe choices and tips for early detection by learning the ABCDE’s of melanoma when performing skin.
    Speaker: Matthew Austin, MD, oncology, Yale Medicine
    Location: Westerly Hospital, 25 Wells St.
    Register online or call 1-800-636-2824

  • May 4: “Coronary Artery Disease: The clock is ticking”
    Overview of coronary artery disease: Causes, prevention and treatment
    Speaker: Brian Cambi, MD, cardiology, Yale Medicine
    Location: Lawrence + Memorial Hospital, 365 Montauk Ave., New London
    Register online or call 1-800-562-2537.
  • May 11: “Melanoma Awareness: Symptoms, prevention and treatment” 
    Learn the ABCDE’s of melanoma when performing self-exams and ways to prevent skin cancer
    Speaker: Mary Ann Bentz, MD, dermatology, L + M Hospital
    Location: Lawrence + Memorial Hospital, 365 Montauk Ave., New London
    Register online or call 1-800-562-2537.
  • May 18: “Understanding Gallbladder Pain”
    Speaker: Justin Gauthier, MD, general surgery, NEMG
    May 18, 5 - 6 pm 
    Location: Westerly Hospital, 25 Wells St.
    Register online  or call 1-800-636-2824.

Cutting-edge procedures for bladder cancer at Westerly Hospital

Bladder cancer is the fourth-most common cancer in men and the eighth-most common cancer in women, typically affecting people aged 55 and older. About 80,000 people in the United States are diagnosed annually, based on early symptoms that may include blood in the urine, frequent and painful urination and lower back pain. 

Urology surgeons at Westerly Hospital recently debuted the most innovative surgical procedure for the treatment of advanced bladder cancer. The procedure, which is performed using the da Vinci® robotic system, involves the construction of a new bladder fashioned from other parts of the body so the patient can urinate normally after surgery. 

These types of sophisticated surgeries can only be performed at specialized centers such as the Bladder Cancer Program at Lawrence + Memorial and Westerly hospitals, where physicians and surgeons affiliated with the Prostate and Urologic Cancers program at Smilow Cancer Hospital are at the forefront of bladder cancer treatment and research. 

Patients also have opportunities to take part in clinical trials through Yale Cancer Center that contribute to research on treatment for bladder, kidneys, prostate, and other urologic malignancies. 

Yale Urology offers a Bladder Cancer Support Group that is open to any patient diagnosed with bladder cancer in the Smilow Cancer Network. The group, which meets virtually on the first Monday of every month, includes patients in different stages of their diagnosis, treatment or recovery and provides an open forum task questions and voice your concerns, frustrations or fears. To learn more about the Bladder Cancer Support Group, call 203-909-4313. 

Learn about resources at behavioral health forum

Behavioral health experts from Lawrence + Memorial Hospital will discuss resources available at the hospital and in the community for providers, caregivers, families and those in crisis during a free public forum on Thursday, March 29.

The event, hosted by the Auxiliary of Lawrence + Memorial Hospital, will be held at the Garde Arts Center, 325 State St., New London. Doors will open at 4 p.m., and the event will start at 5.

Panelists will include Shanthi Mogali, MD, chairman of psychiatry at L+M Hospital and Westerly Hospital, and Ashley Coughlin, MD, medical director of Intensive Outpatient Services at L+M Hospital. 

Online registration is available. Participants may submit questions in advance at the time of registration. Online registration closes March 24. To register thereafter, call the Garde at (860) 444-7373. 

Registration open for Smilow Beyond Beauty Program on April 26 

The Beyond Beauty Program is a free service for Smilow Cancer Hospital patients, provided by our licensed cosmetologists, certified hair and wig specialists and The Cingari Family Boutique. It is created for current Smilow patients who are undergoing chemotherapy and radiation treatment and experiencing the temporary visual changes to their hair, skin and nails. If you are a current Smilow patient, you are invited to attend an interactive makeup lesson on April 26 from 2-4 pm at Smilow Cancer Hospital Care Center at Waterford, 230 Waterford Pkwy S., Waterford. You must pre-register to receive your makeup toolkit on the day of the class. Sign up for the Beyond Beauty Program online or by calling the Cingari Family Boutique at 203-200-2273 (CARE) or asking your social worker or nurse for details. 

Join the Auxiliary at Lawrence + Memorial Hospital

Join the hundreds of women and men of the Auxiliary at Lawrence + Memorial Hospital, who have devoted thousands of hours to support the hospital, meet the needs of patients in southeastern Connecticut and improve the health of the community.

Founded in 1914, the Auxiliary has continually raised funds to help support a variety of programs and departments, including the Neonatal Intensive Care Unit, the Smilow Cancer Hospital Care Center in Waterford, the Emergency Department renovation project, Cardiac Rehabilitation, Speech and Language Pathology, the Visiting Nurse Association of Southeastern Connecticut and the Healing Garden (an area set aside for families and friends who need a place to find comfort and quiet).

Members are a dedicated, dynamic and diverse group. New members are always welcome and contributions of time, talent and/or resources are appreciated. As a member, you can be as active as your schedule allows. 

For more information about becoming a member today, email Kathy Bergeron at [email protected] or download and submit the form.

Billing questions? 

Yale New Haven Health offers financial counseling to patients and families. Spanish-speaking counselors are also available. To make an appointment with a financial counselor, call 855-547-4584.