Hereditary Genetic CA Screening

After losing her mother to ovarian cancer at the age of 56 years old, Angelina Jolie became aware of her up to 87% risk of developing breast cancer and up to a 50% risk of developing ovarian cancer in her lifetime. Upon learning that she tested positive for the BRCA1 gene, Ms. Jolie’s decision to share her choice to undergo an elective double mastectomy in 2013 helped elevate genetic screening exams into our cultural consciousness.

BRCA stands for “breast cancer susceptibility genes.”. In the early 1990’s it was discovered that BRCA1 and BRCA2 proteins are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. However, if BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. Both the BRCA1 and BRCA2 genes have been linked to hereditary breast and ovarian cancers, and research strongly suggests that these defective genes also greatly increase a woman’s chance of developing cancer in her Fallopian tubes and peritoneum as well.

While it is important to know that most breast cancer is not hereditary, up to 25% of inherited breast cancer can be attributed to the BRCA1 and BRCA2 genes. In the United States, approximately 5% of breast cancers and 10-15% of ovarian cancers are hereditary. Hereditary cancer screening for changes in the genes can help steer women toward potentially lifesaving treatments.

In fact, somewhere in the neighborhood of 10% of cancers can be inherited.  The Human Genome Project was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire human genome. Since its completion in 2003 additional genes have been identified that have a relationship to risk for familial or inherited cancers. In March 2000, President Clinton announced that the genome sequence could not be patented, and should be made freely available to all researchers. The Supreme Court in turn ruled that BRCA1 and BRCA2 are not patentable, since they are “products of nature,” which allows for more companies to devise tests for cancer-causing mutations.  This has allowed for the study of genetics and breast and ovarian cancers to evolve rapidly over the last decade.  And as above, while in the 1990s genetic testing focused most often on the BRCA1 and BRCA2 genes, it is becoming increasingly common to do “panel” or “multi-gene testing.”  This involves multiple other high-risk gene mutations, including BRCA1 and BRCA2.

The evidence on panel testing is still developing. However, some studies have shown it can accurately find BRCA1/2 and other important high-risk mutations that can help manage a person’s breast cancer risk. Because panel testing is still relatively new, the specific set of mutations assessed can vary from test to test. This can have an impact on how results are interpreted and how the information is used.

While at-home testing for gene mutations related to breast cancer is available, The U.S. Food and Drug Administration, U.S. Federal Trade Commission and Centers for Disease Control and Prevention all caution against the use of at-home testing kits.  As with traditional genetic testing, panel testing should only be done in a medical setting after a detailed discussion of risks and benefits with a trained physician or genetics counselor.

Your gynecologist can help address your questions and concerns, and is the first medical professional you should contact regarding inherited female cancers. Based on your personal and family medical history, along with other criteria he or she can determine if you are a candidate for hereditary genetic testing. When looking at your personal and familial health histories (hereditary cancer testing), consider possible indicators of a potential hereditary gene mutation:

  • Several first-degree relatives (mother, father, sisters, brothers, children) with cancer, especially if they’ve had the same type of cancer
  • Cancers in your family that are sometimes linked to a single gene mutation (for instance, breast, ovarian, and pancreatic cancer).
  • Family members who had cancer at a younger age than normal for that type of cancer
  • Close relatives with rare cancers that are linked to inherited cancer syndromes
  • A physical finding that is linked to an inherited cancer (such as having many colon polyps)
  • A known genetic mutation in one or more family members who have already had genetic testing

If screening favors genetics testing, your gynecologist can work with you to get the hereditary genetic cancer testing done.  She or he, and genetic counselors are trained to interpret and explain the test results and what they might mean to you and your family. If a mutation is found, the counselor will talk to you about which of your family members might also be affected.  It will be important for those family members to know exactly which mutation was found and in which gene. They can then discuss this information with their doctors and consider being tested as well.  Your doctor can then more fully discuss treatment options, and help you choose what is right for you.

At AMIGS we offer hereditary cancer screening through a simple, quick and painless salivary sample that is then sent forward to the laboratory for genetic testing. Genetic counseling services are included with the testing, and once results are available, a detailed report is generated, and a plan is constructed to review your potential options. Although genetic testing does not always give you clear answers, it can offer you peace of mind and the knowledge of an important aspect of your personal and family medical histories.

Body-mass index (BMI) is another way to find out whether you are at a healthy weight.

Most of us judge whether we are at a healthy weight by stepping on a bathroom scale.  Body-mass index (BMI) is another way to find out whether you are at a healthy weight.  BMI provides a reliable indicator of “body fatness” for most people, and is used to screen for weight categories that may lead to long-term health problems.

Body Mass Index (BMI), is a number calculated from a person’s weight (in pounds) and height (in inches).

A calculated BMI will help you determine your true weight status as either underweight, normal, overweight, or obese. These BMI ranges are based on the effect of weight status on disease and death. Generally, as a person’s BMI increases, so does their risk for a number of health conditions and diseases.

BMI Weight Status

Below 18.5 Underweight

18.5 – 24.9 Normal

25.0 – 29.9 Overweight

30.0 and above Obese

Having a BMI of 25 or higher may be an indicator of having too much body fat.  But there are other health risk factors that should be considered along with your BMI.  These risk factors include a high cholesterol level, high blood pressure, diabetes and mildly elevated blood sugars, or “borderline diabetes”. Another risk factor is a waist circumference of 40 inches or more in men or 35 inches or more in women.

BMI measures are not always accurate for everyone and in certain circumstances BMI should be interpreted with caution.

BMI is only applicable to adults 20 years old and older, and is interpreted using standard weight status categories that are the same for all ages and for both men and women.  For children and teens, the BMI is both age and sex-specific.

Women who are temporarily carrying extra weight due to pregnancy should not use BMI to determine health risk.

Athletes and body builders may also have a falsely elevated BMI as they typically have a large proportion of their body weight contributed by lean body mass (muscle tissue).

20 Methods of contraception. Which one is right for you?

Birth control has been used for thousands of years to prevent pregnancy. Today there are many safe and effective birth control – or contraceptive – methods available. And there is not one method that is right for every person. In fact, there are currently 20 methods of contraception!

  • Abstinence and outercourse
  • Birth Control Patch
  • Birth Control Pills
  • Birth Control Shot
  • Breastfeeding (Lactational Amenorrhea Method)
  • Cervical Cap
  • Intrauterine Contraception (IUC)
    • Copper-T IUD
    • Hormonal IUD
  • Diaphragm
  • Emergency Contraception
  • Female Condom
  • Female Sterilization
  • Fertility Awareness Methods
  • Implant
  • Male Condom
  • Spermicide
  • Sponge
  • Withdrawal (Pulling Out)
  • Vaginal Ring
  • Vasectomy

So – what are some things you need to think about when choosing a birth control method that will be right for you?

Ask the following questions:
How well does a particular method prevent pregnancy?
How easy is it to use?
Would you like to help control your bleeding patterns?
Do you need a prescription to use it?
Does it protect against sexually transmitted infections (STIs)?
Do you have any health problems?

Answering these questions will help with narrowing down your choices, and through discussions with your health care provider, you will be able to better choose a birth control method that will be most effective for you.

Some more things to know about FEMALE SEXUAL DYSFUNCTION (FSD)…

In general, there are 4 kinds of sexual problems in women: Desire disorders, when there is no interest in having sex, or a decreased desire for sex than previously; Arousal disorders, when there is the absence of the feeling of a sexual response or difficulty in staying sexually aroused; Orgasmic disorders, when there is the inability to have an orgasm, or there is pain during orgasm; and Sexual pain disorders, which is when there is pain during or after sex.

There are physical causes for sexual dysfunction, as well as psychological causes. Physical causes include certain medical conditions such as vaginal infections or chronic diseases, such as diabetes and heart disease. Hormonal imbalances, fatigue, alcoholism and drug abuse, as well as the side effects from certain medications can affect sexual desire and function. Psychological causes include stress and anxiety, relationship problems, depression and a history of current or past sexual abuse.

Ideally, treatment of FSD involves a team effort between the woman, doctors, and trained therapists. Most types of sexual problems can be corrected by treating the underlying physical or psychological problems.

It is important that women and their partners understand that there are many elements of the treatment of FSD. For example, education about anatomy, sexual function, and the normal changes associated with aging, as well as sexual behaviors and appropriate responses, may help a woman to become less anxious about sexual function and performance.

The good news is that there is often great success in treatment for FSD. Depending on the underlying cause of the problem, the outlook can be quite good, particularly for FSD that is related to a treatable or reversible physical condition. Even FSD that is related to stress, fear, or anxiety often can be successfully treated with counseling, education, and improved communication between partners.

If a woman has concerns about FSD, she should feel comfortable discussing this with her health care professional. And, in turn, the health care professional should be able to discuss FSD with his or her patients and refer out if necessary.

Female Sexual Dysfunction: It’s time to start a discussion with your healthcare partner.

Sexual expression is a normal and healthy part of human behavior. And yet women are not always comfortable discussing their sexual health. While research suggests that women (as well as men) have issues concerning their sexuality and sexual health, it remains a topic that people are hesitant to discuss with their healthcare providers. In turn, healthcare providers are working to better understand how to speak with our patients about their problems with sex, or “sexual dysfunction,” because most cases of sexual dysfunction are treatable. And how we treat these issues requires the understanding that there is a difference between male and female sexual response and that there are different causes of sexual dysfunction.

So how do you know if you have a “problem?” Most adults will encounter some problem with sex and some point in their lives. This doesn’t necessarily mean that you have sexual dysfunction. But if you don’t want to have sex, or it never feels good, please consider discussing your concerns with your gynecologist or other healthcare professional, which would be a confidential encounter. Sexual dysfunction is diagnosed through a conversation about your concerns and evaluation that may include a pelvic exam, and will likely involve a discussion about your attitudes regarding sex, as well as other possible contributing factors.

How we treat female sexual dysfunction, and how successful treatment is, will depend on the underlying cause. Treatment requires the involvement of the woman, engagement of her sexual partner, the involvement of her trusted provider who is interested in sexual dysfunction, and possibly the expertise of trained sexual therapists.

The Washington Post recently reported that while our culture is more sexualized than ever before, people are having less sex than in the recent past. And there appears to be no clear explanation for this “sexual slump.” If you are concerned that you may not be having as much, or the kind of sex you would like to be having, please contact your healthcare partner who can suggest ways to treat your sexual problem or can refer you to a sex therapist or counselor if needed.

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