Welcome GINA!

By Sarah Zornetzer, MS CGC

With the increasing availability of genetic testing, people are concerned about insurance and employer discrimination. Finally, after 13 years on May 21, 2008 the Genetic Information Nondiscrimination Act (GINA) was signed into law.

GINA is a tremendous step forward in protecting our genetic information. This law prohibits health insurers from using genetic information for eligibility determination or setting premiums. It prohibits health insurers and employers from requesting or requiring an individual to take a genetic test. GINA also prohibits employers from using an individual’s genetic information for decisions such as hiring, firing, job assignments, and promotions.

Thank you to Congress, organizations, and individuals who have worked tirelessly to protect our rights!

For more information please visit the Coalition for Genetic Fairness website at http://www.geneticfairness.org/.

Having Children After Vasectomy

My husband had a vasectomy when he was in his early 20s. We thought about adoption but would like to have children that are genetically related to us. What are our options?

A vasectomy (vas = vas deferens; ectomy = to cut) is the surgical procedure that cuts or clamps the little tube that connects the testes (where sperm are produced) to the urethra (the part of the penis through which sperm passes during ejaculation). As a result the sperm cannot be ejaculated. Sperm production does continue after vasectomy, but at a greatly reduced rate. Vasectomies are reversible but surgery does not guarantee success. The length of time that has elapsed since the vasectomy was performed and the method used to perform the vasectomy are important factors. If the vasectomy reversal is successful, sperm production often can recover to pre-vasectomy levels. Sometimes scarring that develops after reversal blocks vas deferens.

Many couples achieve pregnancy after vasectomy reversal. If sperm production is very low, you may consider using an assisted reproductive technique such as IVF or ICSI (intracytoplasmic sperm injection, used in conjunction with IVF). If the vasectomy reversal is unsuccessful, or if you do not wish to attempt a reversal, sperm can be retrieved directly from the testes for use in an ICSI procedure.

Discuss your desire to have biological children with your gynecologist or infertility specialist. You also can do some research on vasectomy reversal and suggest that your husband discuss the procedure's pros and cons with his urologist. After you understand your options, you can make an informed decision about the course you want to pursue.

Artificial Gametes: Will Sperm and Eggs Become Obsolete Someday?

By Andrew Dorfmann, MS ELD(ABB)

A recent article in the journal Reproductive BioMedicine Online Vol 16:4 2008 (Development of Artificial Gametes, by Dr. Zsolt Peter Nagy) explores the fascinating though controversial topic of artificial gametes. Using artificial gametes, we may someday be able to overcome certain untreatable forms of infertility using non-germ cells derived from the infertile patients themselves.

While all normal cells can replicate themselves, the germ cells; sperm and oocytes (eggs), are capable of replicating an entire organism. Germ cells are able to do this by a mechanism known as meiosis, a specialized form of cell division in which the genetic material is reduced by half in each gamete in preparation for fertilization and embryo formation. In this manner, male and female germ cells can come together, combine the two single sets of genetic material and form a new and unique individual. Though scientists have been studying these processes in plants, animals and humans for many years, there is still much that is unknown about the molecular and biochemical details of this special form of cell division in sperm and oocytes.

The article by Dr Nagy presents two strategies in which one could potentially create artificial gametes. One idea is to use somatic cells (i.e.- any cell type in the body other than germ cells) and trick them into going through a meiosis-like cell division that results in cells containing one half of the genetic material that was present in the original cells. This “reduction division” process is called “somatic cell haploidization” that results in cells that contain the same amount of genetic material as there is in germ cells and half the genetic material present in somatic cells. There have been some modest success in this area, but to date, there are too many problems in the accuracy of the reduction division. The cells that result from haploidization have errors in ploidy -- (the number of chromosomes), and also problems with epi-genetic effects -- a kind of conditioning effect of the germ cell environment or other effects external to the genome that impact the way the genes are expressed.

The other artificial gamete strategy is to direct the differentiation of stem cells (either embryonic or adult in origin) in a manner to create new germ cells. At the present time while various strategies are being attempted, this is only an experimental procedure being used in animal models, though certainly a very appealing one. So far, these artificial gametes also seem to have the same problems of ploidy and epi-genetic errors. Using embryonic stem cells is more likely to be fruitful for this type of strategy, but there is of course great controversy surrounding these cell lines. Adult stem cells may be suitable, but since they are further down the path of differentiation, it will be harder to direct their development back to functional germ cells.

So, at least for the present and the foreseeable future, we will still need to capture and culture sperm cells and oocytes in the IVF laboratory to treat infertility. But the future holds much promise in this exciting area of biomedicine.

Mother's Day is Devastating for Women Facing Infertility

Mother’s Day is painful for millions of women coping with infertility, which affects at least 6 million American women. “All of my clients dread Mother’s Day,” says Phyllis Martin, a therapist with the Genetics & IVF Institute in Fairfax, VA. “Women who are distressed by Mother’s Day need to find a way to ‘take back the day,’” Ms. Martin added.

To help women who are facing infertility cope with Mother’s Day, fertility experts offer the following tips:

1. Share your feelings with your partner, family members and friends. Understanding how you feel will help them understand why you may choose to avoid certain events or places on Mother’s Day.

2. Don’t feel guilty or ashamed of your feelings about Mother’s Day. Give yourself permission to take care of yourself emotionally – even if it means changing traditional plans for the day.

3. Consider ways to protect yourself from emotionally charged situations. Instead of going to a restaurant with your mother on Sunday, for example, you might plan to spend Saturday with her instead or celebrate at home rather than eating out. (Many family groups with small children celebrate Mother’s Day in restaurants, and seeing those happy interactions can be painful for women who fear they will never celebrate with children of their own. It also can be difficult for would-be mothers when restaurant staff members ask female diners if they are mothers because they provide flowers or other gifts to moms on Mother’s Day. Saying that she is not a mother can be excruciating for a woman who is concerned about her fertility.)

4. Remember that some churches ask mothers to stand during services to be recognized on Mother’s Day. Ask your clergy to consider women who may be struggling with infertility when they plan services and to find a way to recognize women who are trying to become mothers, too.

5. Spend the day doing something you love – perhaps by enjoying a sport, hobby, movie or other activity that will engage you.

6. Honor your own efforts to become a mother or develop a strategy with your husband or partner to honor your efforts – perhaps by lighting a candle, planting a tree, wearing an angel pin or doing something else that is significant for you.

7. Avoid malls and other shopping centers right before Mother’s Day when store displays and counters are loaded with items promoted as Mother’s Day gifts.

8. Focus on the future and how you will achieve your goal of becoming a mother. Adoption is an option, but if properly treated, most women can become pregnant through advanced reproductive technologies, including in vitro fertilization (IVF) and in vitro fertilization using donor eggs.

Support groups can be extremely helpful for individuals grappling with the emotional effects of infertility. Ms. Martin facilitates a group for people interested in donor egg and a general infertility support group. Many clinics offer support groups- it is worthwhile to check with your local clinic to see what they have to offer.

Poll: Stress and Pursuing Treatment

The Hoopla About Folate- You May Not Like Spinach But Your Sperm Do

By David Karabinus, Ph.D., HCLD

“Eat your vegetables” is an exhortation often heard in childhood that is frequently followed by the statement “Because they are good for you”. And it is true: vegetables are an excellent source of vitamins and minerals that are essential micronutrients for normal growth and maintenance. Recently there has been considerable attention paid to dietary supplements that can have a positive effect on reproductive potential. One such supplement is folate.

Folate is a water-soluble B vitamin (Vitamin B9) that occurs naturally in foods such as cereal grains, green leafy vegetables such as spinach, broccoli, and lettuce, okra, fruits, legumes, yeast and numerous others. This vitamin is also available as a supplement in the form of folic acid. The nutritional importance of folate is illustrated by the publication of regulations by the FDA requiring the addition of folic acid to enriched breads, cereals, flours, corn meal and other grain products.

Folate plays an extremely important role in the production and maintenance of new cells, particularly during periods of rapid cell division and growth such as during pregnancy or infancy. It is crucial in organs characterized by rapid cell division because its role in DNA and RNA synthesis. The testis is an organ in which considerable cell division takes place since it produces millions of sperm every day. Because of this, one would expect folate intake to have an impact on reproductive function in general and testicular function in particular. Dietary folate deficiency results in reduced testicular and epididymal weight in lab animals; drugs that interfere with folate absorption or utilization can also adversely impact reproductive health. Chronic alcohol use has been shown to interfere with folate metabolism and result in reduced reproductive organ weights, reduced sperm production, and lowered reproductive hormone levels. Supplementation with folic acid has been shown to have mostly positive effects on human male reproductive parameters. Short term supplementation with 10 milligrams folic acid per day was shown to have no effect on sperm quality. Another study showed that men whose folate intake was low, moderate or high did not differ for seminal volume, sperm concentration, total sperm count, or sperm motility. However, several studies have shown that longer term supplementation with folic acid alone or in combination with zinc have had positive results on sperm output, sperm motility, and normally shaped sperm. Likewise, men who had a high level (~1000 micrograms/day) of folate intake exhibited a reduced level of sperm containing chromosomal abnormalities.

The results of studies show that folate can have a positive effect on male reproductive health. However, it must be recognized that reduced or impaired male fertility can be a result of many individual or interacting causes for which there is no single ‘silver bullet’ cure. Meanwhile, please pass me another helping of green, leafy vegetables.