Genetic Testing a Tool for Families Dealing with Certain Heart Diseases

Investigating the hereditary roots of some cardiovascular diseases could help patients and their doctors make decisions, identify risks and manage treatment, according to a new report.

The scientific statement from the American Heart Association summarizes what’s known – and what needs further research – about the genes that influence heart disease, and how genetic testing can impact how those conditions are managed. The report was published Thursday in the journal Circulation: Genomic and Precision Medicine.

“With most genetic cardiovascular diseases, inheriting a mutation (or variant) from a parent substantially increases the risk of getting the disease but does not guarantee the disease,” Dr. Kiran Musunuru, chair of the statement’s writing group, said in a news release.

“In some cases, it might be possible to act early and prevent the disease,” said Musunuru, professor of cardiovascular medicine and genetics at the University of Pennsylvania’s Perelman School of Medicine in Philadelphia. “In other cases, having the mutation for a genetically caused cardiovascular condition might lead to different and possibly more aggressive treatment.”

Cardiovascular conditions that may have an inherited genetic component, according to the statement, include:

– cardiomyopathies, heart muscle diseases that can lead to heart failure

– thoracic aortic aneurysms and dissections, which can cause the body’s major artery to balloon and rupture

– arrhythmias, abnormal heart rhythms that can be deadly

– familial hypercholesterolemia, extremely high LDL cholesterol levels that greatly increase the risk of heart attack

“Although genetic testing has seen explosive growth in the past few years, both in the clinical setting and with direct-to-consumer testing, genetic testing for heart disease should be reserved for specific patients,” Musunuru said.

Before considering testing, the statement says a health care provider and patient should document family medical history, ideally going back three generations, to determine if there is a pattern of certain types of heart disease. Then, the screening should be reserved for people diagnosed with an inherited cardiovascular disease or suspected of having one, or for those with a family member who has a gene variation for one of the conditions.

Because immediate family members such as parents, siblings or children might share genetic variants predisposing them to an inherited heart disease, they are considered at higher risk for the conditions. So, once a genetic variant is identified, immediate family should consider testing and counseling, the statement said.

Despite advances in human genetics that have improved the understanding of inherited cardiovascular diseases, the statement cautioned there are still a lot of unknowns. In many cases, genetic tests can be inconclusive. Or someone diagnosed with an inherited cardiovascular disease may not test positive for any genetic variations.

“Another issue is that we have not yet clarified the full spectrum of genes that are responsible for various inherited cardiovascular diseases. We are still very much in discovery mode, with ongoing research efforts,” Musunuru said. “Genetic testing methods are evolving, and reliable classification of variants identified in genetic testing will remain a preeminent challenge for the practice of clinical genetics.”

Source: American Heart Association

Study: Coronavirus Came to New York City From Europe, Not Asia

The new coronavirus has been circulating in New York City for longer than previously believed and most cases can be traced back to Europe, a new study reveals.

To come to that conclusion, genetic information about the coronavirus was gathered from nasal swab samples taken from 75 patients at Tisch Hospital, NYU Winthrop Hospital and NYU Langone Hospital Brooklyn, said the NYU Langone Health team.

The findings were submitted to the Global Initiative on Sharing All Influenza Data, which promotes the international sharing of data on influenza infections and is now tracking the evolution of the new coronavirus.

“The value of determining viral local sequences is that — the more that become available — the better we can monitor the spread and severity of the disease — and the more it can clarify which drugs, vaccines or social interventions are effective here,” said sequencing team leader Adriana Heguy, director of NYU Langone’s Genome Technology Center.

“We’re just starting this project, but will soon be sequencing 192 viral samples per week with the goal of offering thousands of sequences for analysis in the near future,” Heguy added in an NYU Langone news release.

“This global effort does not just determine the code of a single version of the virus, but tracks how its genetic code changes as it moves through a population, and with what consequences,” explained Dr. Matija Snuderl, director of Molecular Pathology and Diagnostics at the NYU Grossman School of Medicine in New York City.

“As viruses evolve during transmission from person to person, their sequences can help researchers to zero in on the provenance, or place of origin, of that specific infection,” said Snuderl, who leads the clinical testing team.

“Slight changes in the genetic code of a virus that happen during transmission from person to person can help to guide the public health response,” added Matthew Maurano, from NYU Langone’s Institute for Systems Genetics and Department of Pathology.

Source: HealthDay


Today’s Comic

Myths Surrounding Cancer and Genetic Testing

While only 5 percent to 10 percent of cancers are caused by an inherited gene mutation, genetic testing may benefit people with a strong history of family cancer, an expert in genetics suggests.

This is especially true in families with a history of breast, ovarian, prostate or pancreatic cancers (especially if you are of Ashkenazi Jewish descent), as well as colon and uterine cancers, said Monique Lubaton. She is a cancer genetic counselor at LifeBridge Health in Baltimore.

Lubaton said there are many myths about inherited cancers and genetic testing.

The first misconception is that a negative test for a BRCA1 or BRCA2 mutation means a person does not have hereditary cancer syndrome.

In the general population, about one person in 500 has a BRCA1 or BRCA2 mutation. That compares to about one in 40 among the Ashkenazi Jewish population (Central or Eastern European).

While these mutations are the most common cause of hereditary breast or ovarian cancer, a negative genetic test does not mean there is no hereditary cancer risk, Lubaton explained.

“There are a number of other genes that are associated with hereditary cancer syndromes,” Lubaton said in a LifeBridge Health news release.

Another myth is that having an inherited genetic mutation guarantees a person will develop cancer. While most hereditary cancer syndromes have “moderate-to-high” risk levels, the risk can be reduced “with guided management,” according to Lubaton.

Signs of hereditary cancer syndrome include cancers found before age 50; the same type of cancer in three or more members on the same side of the family; and one or more family members with multiple cancers. People with rare cancers like medullary thyroid cancer and male breast cancer, or a history of more than 10 colon polyps, may also have hereditary cancer syndrome.

Some people think a woman can’t get a genetic mutation from her father. That’s wrong, Lubaton said.

Nearly all hereditary cancer syndrome mutations can be passed down by either mother or father. But inherited mutations in these genes increase female carriers’ risk of breast and ovarian cancers, she added.

Another misconception is believing that if you’ve already had cancer, there’s no need to find out whether you have an inherited gene mutation.

People with such mutations are at increased risk for multiple cancers over a lifetime, so it’s important to know about these mutations, according to Lubaton.

“Also something important to know, there are now targeted therapies for individuals with genetic mutations,” she said.

Lubaton said genetic testing is more affordable than most people think and insurance often covers the cost.

Source: HealthDay

Study: Many New Breast Cancer Patients Do Not Receive Genetic Testing

Nearly half of newly diagnosed breast cancer patients who should have genetic testing don’t receive it, a new study finds.

Genetic testing can play an important part in deciding the best course of treatment, the University of Michigan researchers noted.

The study included just over 1,700 women with early stage breast cancer who could benefit from genetic testing.

Not only did many receive no genetic testing, one-quarter of patients were not counseled about their potential risk, the researchers found. In addition, less than two-thirds of those who had genetic testing met with a counselor before surgery, when test results could have the greatest impact on treatment.

About one-third of breast cancer patients who have a family history of the disease or are diagnosed at a young age have a genetic predisposition for breast cancer. For these patients, genetic testing can play an important role in determining treatment, the study authors explained.

For example, a patient might choose to have both breasts removed if genetic testing indicates she is at high risk of a second breast cancer.

“Integrating genetic counseling into treatment decision-making is challenging. Oncologists appropriately focus on treatments for cancer that’s been diagnosed, and patients often desire to make decisions quickly,” study author Dr. Steven Katz said in a university news release.

“Addressing the risk of secondary cancers from a hereditary risk may be seen as a lower priority,” he added. Katz is a professor of general medicine and of health management and policy.

Study senior author Sarah Hawley, a professor of internal medicine, said finding new ways to integrate genetic counseling is important. That might include “incorporating different clinicians — including genetic counselors — more flexibly and giving them tools to help patients understand the implications of testing on their treatment,” she added in the news release.

The study was published in the Journal of Clinical Oncology.

Source: HealthDay


Today’s Comic